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Why Do People Snore, And Is It Genetic?

Aira on August 9, 2024

Overview

Snoring is caused by the vibration of soft tissues in the throat and airway as air flows past them during sleep. Factors contributing to snoring include anatomical attributes like a deviated septum or enlarged tonsils, obesity, which can lead to extra tissue in the throat, aging that relaxes throat muscles, and lifestyle factors like alcohol consumption and smoking.

Nasal congestion from allergies or infections and certain sleep positions, especially sleeping on the back, can also exacerbate snoring. Conditions like obstructive sleep apnea (OSA), where the throat tissues intermittently block the airway, can also lead to snoring.

Changing sleeping positions can be helpful to stop snoring immediately. Sleeping on the side rather than on the back prevents the tongue and soft tissues in the throat from collapsing into the airway. Elevating the head of the bed by a few inches can also aid in keeping the airways open. Using nasal strips or an external nasal dilator to reduce nasal congestion and ensure smoother airflow through the nose can provide immediate relief.

Maintaining optimal weight, avoiding alcohol and smoking, and establishing regular sleep patterns are key to preventing snoring. Humidifying your bedroom to keep the air moist can alleviate nasal congestion. Practicing good sleep hygiene, like ensuring a quiet and comfortable sleeping environment, is also beneficial. For some, allergy management and specialized pillows to encourage side sleeping can also help prevention.

The Genetics Of Snoring

Heritability

A 2020 study focused on the genetic aspects of snoring. Researchers conducted a comprehensive genetic analysis using data from approximately 408,000 individuals from the UK Biobank, including around 152,000 who snore. They successfully identified 42 loci significantly associated with snoring at a genome-wide level. The SNP-based heritability for snoring was estimated to be approximately 10%.

Further, a study conducted in a Korean cohort in August this year (2023) tried to assess the genetic predictability of snoring using a polygenic risk score. The main objective of this study, which included 3,526 snorers and 1,939 non-snorers from the Korean Genome Epidemiology Study (KoGES) cohort, was to replicate the validity of a PRS applied to a UK Biobank cohort.

Findings confirmed that the UK Biobank PRS for snoring was reproducible in the Korean cohort and that genetic risk is an independent risk factor for snoring in this population. This insight could aid in developing personalized strategies to mitigate snoring, particularly in individuals with a high genetic risk.

Genes

In the 2020 study mentioned earlier, researchers also found genetic correlations between snoring and several factors and conditions, including body mass index (BMI), alcohol intake, smoking, schizophrenia, anorexia nervosa, and neuroticism. Through gene-based associations, they pinpointed 173 genes associated with snoring. Among those, DLEU7, MSRB3, and POC5 are notable genes expressed in various body parts such as the brain, cerebellum, lungs, blood, and esophagus.

DLEU7 is associated with various conditions and traits. These include heel bone mineral density, BMI, height, cardiovascular diseases, systolic blood pressure, and a decline in pulmonary function (FEV). The connection between snoring-related genes like DLEU7 and heel bone mineral density might be influenced by BMI, considering the known association between BMI and bone density.

MSRB3, another gene highlighted in the study, is known for its significant role in protein and lipid metabolism pathways. It has been linked with a range of conditions and characteristics, including the volume of the hippocampus, lung function, Alzheimer’s disease, brain injuries, a personality trait known as novelty seeking, deafness, and height.

Earlier in the article, we discussed how underlying conditions like OSA can also contribute to loud snoring. This was the premise of a GWAS published in March this year (2023). In this study, researchers investigated the prevalence of sleep apnea (SA) and snoring across five cohorts.

They identified positions on chromosomes 5, 11, 12, and 16 near genes ANKRD31, STK33, BDNF (also indicated in the 2020 study), KDM2B, and PRIM1, which are significantly associated with sleep apnea. The study also showed that a PRS that combined sleep apnea and snoring data had a better predictive capability.

Non-Genetic Factors That Influence Snoring

Various non-genetic factors can cause snoring, often related to physical attributes and lifestyle choices. Some of the primary non-genetic causes of snoring include

Age: As people age, the throat becomes narrower, and the muscle tone decreases, which can lead to snoring.

Body Weight: Overweight individuals are more likely to snore. Fat around the neck can squeeze the internal diameter of the throat, making it more likely to collapse during sleep, triggering snoring.

Anatomy of Mouth and Sinuses: Physical attributes such as a thick, low soft palate, enlarged tonsils, or adenoids can narrow the airway. A deviated septum (a misalignment of the wall that separates both sides of the nose) can also cause snoring.

Sleep Position: Sleeping on the back can cause the tongue to move to the back of the throat, which partially blocks airflow and leads to snoring.

Alcohol Consumption: Alcohol relaxes throat muscles and decreases the natural defense against airway obstruction, making snoring more likely.

Smoking: Smoking can increase the chances of snoring as it irritates the membranes in the nose and throat, which can block the airways.

Nasal Problems: Chronic nasal congestion or a crooked partition between your nostrils (deviated nasal septum) can contribute to snoring.

Sleep Deprivation: Not getting enough sleep can lead to further throat relaxation, aggravating snoring.

Medications: Certain medications, especially those that relax muscles, such as tranquilizers or sedatives, can increase the likelihood of snoring.

Snoring can also be a symptom of sleep apnea. It is a severe sleep disorder where breathing stops and starts repeatedly during sleep. It is advisable to consult a healthcare professional if symptoms like excessive daytime sleepiness, interrupted sleep, or gasping or choking at night accompany snoring.

Lifestyle Changes for a Snore-Free Sleep

Various lifestyle changes and remedies can be effective in reducing snoring. These include:

Change Sleeping Position: Sleeping on the side rather than the back can prevent the tongue from blocking the throat, reducing snoring. Special pillows or body pillows can help maintain this position.
Maintain Optimal Weight: Achieving and maintaining optimal weight can help reduce snoring. Excess weight, especially around the neck, can pressure the airways, leading to snoring.
Avoid Alcohol Before Bed: Avoiding alcohol and sedatives before bedtime can prevent excessive throat muscle relaxation, which can lead to snoring.
Establish Good Sleep Hygiene: Regular sleep patterns can help reduce snoring. Aim for 7-9 hours of sleep per night and try to go to bed and wake up at the same time every day.
Stay Hydrated: Drinking plenty of fluids can prevent the soft palate and uvula from becoming sticky, which can contribute to snoring.
Clear Nasal Passages: Keeping nasal passages open can help prevent snoring. You can achieve it through nasal decongestants, nasal strips, a neti pot, or a nasal saline spray.
Quit Smoking: Smoking irritates the membranes in the nose and throat, which can block airways and cause snoring. Quitting smoking can help reduce snoring.
Maintain Air Moisture: Using humidifiers to moisten the air in your sleeping area can help soothe nasal passages and the throat, potentially reducing snoring. If a humidifier is not an option, simple alternatives like placing a bowl of water in the room or hanging damp towels can help add moisture to the air.
Elevate Your Head: Elevating the head of your bed by a few inches can help prevent airways from collapsing, reducing snoring.
Exercise: Regular physical activity can tone the muscles in your throat, reducing snoring.
Consider Anti-Snoring Devices: Devices like mandibular advancement devices (MADs) or tongue-stabilizing devices (TSDs) can help keep the airway open during sleep.
See a Doctor: If snoring is severe, persistent, or accompanied by pauses in breathing, gasping, or choking during sleep, it is vital to consult a healthcare professional as it may be a sign of sleep apnea or another medical condition.

These lifestyle changes can be effective for many people. But remember that the effectiveness can vary depending on the individual and the underlying cause of the snoring.

About The LifeDNA Sleep Report

Sleep is essential for all our well-being. LifeDNA’s Sleep Report gives an insight into several traits that can help you optimize your sleep at night.

LifeDNA’s Sleep report analyzes Habitual Snoring and nine other sleep-related traits. Get your insights here.

References

* LifeDNA is not associated with the above company.

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

Is Psoriasis Genetic?

Aira on August 9, 2024

Overview

Psoriasis is a common, chronic skin condition occurring worldwide, presenting at any age, and leading to a substantial burden for individuals and society. It is associated with several important medical conditions, including depression, psoriatic arthritis, and cardiometabolic syndrome, impacting millions of people around the world.

Understanding this skin condition is essential for its effective management.

What Causes Psoriasis?

Psoriasis has a complex origin that can be attributed to both genetic and non-genetic factors. While genetics play a significant role in predisposing individuals to psoriasis, it’s only one piece of the puzzle. Environmental triggers and lifestyle choices also contribute to the development and progression of this condition.

Understanding both genetic and environmental factors contributing to psoriasis is vital for a better grasp of the condition and for improving support and treatment options for those affected.

Genetic Factors

Researchers have found specific gene variations related to our immune system and the skin’s protective barrier that can make the skin more sensitive and vulnerable to triggers.

In a family, if one parent has psoriasis, there’s a 20% chance their child will develop it, and this risk increases to 65% if both parents are affected.

Studies involving twins have shown that if one identical twin has psoriasis, there’s a 70% chance that the other twin will also develop the condition. In non-identical twins, this likelihood is lower, at 20%.

These findings highlight the relevance of hereditary factors in psoriasis.

HLA-C w6 and SNP rs10484554

The PSORS1 locus, located on chromosome 6, is one of the key genetic areas linked to psoriasis. Recent genetic studies have highlighted the significance of HLA-C, specifically the variant HLA-Cw6 (rs1131118), in psoriasis development, but the precise role is still under study. Additionally, SNP rs10484554 in the HLA-C region has been associated with a higher risk of psoriasis in some studies. It’s worth noting that psoriasis shares genetic overlaps with other conditions, such as type 2 diabetes, indicating complex genetic interactions. The specific mechanisms through which SNP rs10484554 influences psoriasis development are an active area of research, contributing to our understanding of the genetic complexities underlying this condition.

IL36RN and CARD14

While many genes may contribute to psoriasis risk, specific gene mutations like those in IL36RN and CARD14 have been found to independently trigger psoriasis. These mutations affect both the skin and the immune system. Also, polymorphisms (SNPs) in the IL36RN gene on chromosome 2 can lead to variations in the IL-36Ra protein, which plays a role in regulating inflammation. IL36RN mutations and polymorphisms are particularly associated with pustular psoriasis.

On chromosome 17, the PSORS2 region has also been associated with psoriasis. Recent research has identified rare mutations in the CARD14 gene, contributing to overactive immune responses in familial psoriasis cases.

TRAF3IP2

A comprehensive genetic study of psoriasis and psoriatic arthritis uncovered 10 regions significantly associated with psoriatic arthritis (PsA) and 11 with cutaneous-only psoriasis (PsC), further pinpointing the genetic distinctions between these conditions. Additionally, the study identified the previously unreported genome-wide significant association of TRAF3IP2 with PsC, adding new insights into the genetic underpinnings of these related conditions.

In a broader genetic analysis of psoriasis, a meta-analysis encompassing multiple genome-wide association studies revealed 15 novel susceptibility loci, expanding the total number of psoriasis-associated loci in European populations to 36. Moreover, this study unveiled candidate genes involved in immune regulation and innate host defense, contributing to our understanding of the genetic factors influencing immune-mediated inflammatory conditions, and emphasizing the skin’s significance in host defense mechanisms.

These findings underscore the consistent role of the TRAF3IP2 gene in psoriasis and its subtypes. This genetic factor has emerged as a critical component in understanding the genetic architecture of psoriasis.

Other Single Nucleotide Polymorphisms (SNPs)

In addition to nucleotide variation in specific genes, scientists have studied SNPs in non-coding regions of the genome. These SNPs are genetic markers that may indicate potential gene regulatory regions related to psoriasis, many of which involve the immune system’s role in the condition.

LifeDNA’s Skincare Report can provide valuable insights to help you determine if you have a genetic predisposition (potential) for developing psoriasis and offer suggestions on managing this skin condition.

Non-Genetic or Environmental Factors

Several non-genetic elements have been associated with a predisposition to the development and exacerbation of this skin condition.

Physical Trauma

In an intriguing historical discovery, Heinrich Koebner observed that physical trauma, like cuts, burns, insect bites, and even tattoos, could trigger and worsen psoriasis. This response, known as the Koebner response, often results in new psoriatic lesions that closely mirror the type of injury sustained.

The prevalence of this response in psoriasis patients ranges from 24% to 51%. The development of psoriasis following an injury can take anywhere from 3 days to 2 years and may depend on factors like the season and the severity of the skin condition.

Drug-Induced Psoriasis

Some medications have been linked to the onset and worsening of psoriasis. Common causes include drugs such as lithium, beta-blockers, antimalarials, tetracyclines, and non-steroidal anti-inflammatory medications.

More recently, medications that include TNFα blockers, IL-6R blockers, and certain interferons, along with the TLR7 agonist imiquimod, have also been reported to induce or exacerbate psoriasis. Other medications such as ACE inhibitors, calcium channel blockers, and IL-2 in the form of cancer immunotherapy have also been associated with psoriasis worsening.

Infections

Infections, especially in children, have been identified as significant triggers for psoriasis. Guttate psoriasis, characterized by small, drop-like lesions, has been linked to Streptococcus pyogenes infections through both the throat and skin routes. Additionally, infections like Staphylococcus aureus, Malassezia, and Candida albicans in the gut or on the skin have been associated with psoriasis worsening. In some cases, Helicobacter pylori infection has been observed to correlate with psoriasis severity.

Researchers suspect that toxins from these microorganisms and bacterial components could activate T cells and lead to abnormal immune responses, thus contributing to psoriasis development.

Stress

Psychological stress is known to exacerbate psoriasis by affecting the immune system. Stress hormone levels can increase due to the activation of the hypothalamus–pituitary–adrenal axis, potentially leading to psoriasis worsening.

In particular, cutaneous CRH and CRH-receptor 1 have been shown to regulate local homeostasis in the skin, and in psoriasis, expression of CRH is significantly increased. The pro-inflammatory effects of CRH on the skin are still being studied, but it may stimulate the production of key cytokines, further exacerbating psoriasis.

Alcohol and Smoking

The relationship between alcohol and psoriasis is multifaceted and debated. Studies suggest that alcohol abuse is associated with a higher prevalence of psoriasis. Furthermore, moderate to severe psoriasis patients are at an increased risk of alcohol-related conditions and mortality.

While the exact mechanisms remain unclear, laboratory studies have shown that ethanol can stimulate T cells and induce keratinocyte hyperproliferation. Smoking is another risk factor for psoriasis, with a stronger correlation among women and former or current smokers. Recent research indicates that genetic susceptibility to psoriasis, combined with smoking and alcohol use, can significantly increase the risk.

Obesity

Obesity has been identified as a risk factor for psoriasis, and studies have also suggested a connection between obesity and psoriasis severity. The mechanism behind this link is not fully understood, but it may involve adipokines such as leptin and resistin, which are often found in higher concentrations in psoriasis patients and obese individuals.

These adipokines can stimulate the production of proinflammatory cytokines, leading to skin inflammation. However, the relationship between obesity, weight loss, and psoriasis is complex, and more research is needed to understand their interactions fully.

Curious about your genetic predisposition to psoriasis and seeking personalized skincare advice to proactively address and manage this skin condition? Unlock LifeDNA’s DNA skincare report today.

Is Psoriasis Contagious?

Psoriasis is not contagious; it doesn’t spread through air or touch. It’s rooted in immune system dysfunction, where skin cells grow at an accelerated rate, leading to the formation of dry, scaly patches. This rapid cell turnover contributes to the hallmark plaques of psoriasis.

Does Psoriasis Ever Completely Go Away?

Regrettably, psoriasis has no permanent cure. It falls under the category of chronic conditions. While symptoms can be managed, they typically persist over the long term. New treatment approaches, like biologics targeting immune responses, have revolutionized psoriasis management, enhancing patients’ quality of life.

Is Psoriasis an Autoimmune Condition?

Psoriasis is indeed an immune-mediated genetic skin condition. The interplay of the innate and adaptive immune systems, orchestrated by various cells such as T cells, dendritic cells, macrophages, and keratinocytes, play a central role. Recent years have seen the development of biologics, which are drugs created from living organisms and are designed to focus on specific molecules or pathways in the body.

These target various cytokines, such as tumor necrosis factor-α, interleukin-23, and interleukin-17, drastically altering psoriasis treatment. While genetics are involved, various environmental factors also influence psoriasis onset and exacerbation. Furthermore, psoriasis has been associated with systemic inflammation, cardiovascular comorbidities, and other autoimmune and auto-inflammatory conditions.

Psoriasis Treatment Options

Psoriasis has a history of several treatment options that have proven effective in managing this condition. These include:

Topical Therapy: Traditional treatments like corticosteroids and vitamin D3 analogs have been the cornerstone of psoriasis management, effectively controlling mild to moderate symptoms.
Phototherapy: Historic narrowband UVB therapy utilizes ultraviolet light to alleviate symptoms in moderate to severe cases.
Acitretin: A synthetic retinoid, used to treat moderate to severe psoriasis, often in combination with other therapies.
Methotrexate: A systemic treatment inhibiting folate biosynthesis, employed for moderately severe to severe psoriasis and psoriatic arthritis.
Cyclosporine: A calcineurin inhibitor known to be beneficial for rapidly improving symptoms in moderate to severe psoriasis, despite its potential side effects.

Advanced psoriasis treatments, including biologic therapies such as infliximab, ustekinumab, adalimumab, and etanercept, have transformed psoriasis management. These highly effective treatments target specific proteins or pathways in the body, providing personalized and safe care. These therapies represent promising advancements in the field of psoriasis treatment.

Summary

Psoriasis is a common and chronic skin condition with significant societal and individual burdens.
Its causes are multifaceted, involving both genetic and non-genetic factors.
Genetic factors play a role, with specific gene variations related to the immune system and skin’s protective barrier increasing the potential for developing the condition or its severity.
Environmental factors, such as physical trauma, certain medications, infections, stress, alcohol, smoking, and obesity, can trigger or exacerbate psoriasis.
While there’s no permanent cure for psoriasis, modern treatment options, including biological therapies, have significantly improved symptom management.

References

Is Male Pattern Baldness Genetic?

Aira on August 9, 2024

What is male pattern baldness?

The most typical reason for male pattern baldness, also known as androgenetic alopecia (AGA), is hair loss. A steady and regular pattern of hair loss and thinning characterizes this inherited disorder. Male pattern baldness can substantially affect a person’s self-esteem and confidence, even if it is mostly a cosmetic matter.

The main factors affecting male pattern baldness are hormones and genetics. It frequently comes from one of the two sides of the family—the mother’s or the father’s. The hormone dihydrotestosterone (DHT), which can shrink hair follicles and cause them to generate shorter and finer hair, is linked to the disorder. Affected follicles may eventually completely stop generating hair.

Male pattern baldness frequently begins with thinning hair at the top of the head and a receding hairline at the temples. These bald spots may grow larger as the condition worsens, eventually resulting in partial or total baldness on the top of the head.

At what age does male pattern baldness start?

Male pattern baldness can begin at different ages, and the elements that affect it genetically, hormonally, and personally can affect the timing of it. Although there is no specific age at which it starts, comprehension of the basic features of male pattern baldness can help in understanding how it progresses.

In their late teens or early twenties, some men may already start to detect the first indications of this condition. Early-onset male pattern baldness can be emotionally difficult as it impacts self-image during a formative stage of life. These symptoms frequently include a receding hairline, thinning at the temples, or a more pronounced “widow’s peak.”

The mid-to late-twenties are typically when male pattern baldness starts to become more obvious. At this point, the hairline may further recede and the crown of the head’s thinning hair may become more noticeable. However, each person will progress at a different rate and degree.

Male pattern baldness often advances more by the time men are in their thirties and beyond. The Norwood scale is frequently used to describe the pattern of hair loss, with variable degrees of hairline recession and crown balding. While some men may have a reasonably consistent way of hair loss throughout this time, others may undergo severe hair loss.

What are the leading causes of male pattern baldness?

When estimating the risk of developing male pattern baldness, hereditary factors are to be considered. You may be more likely to develop early-onset baldness if your family has a history of the condition. It can even be a hereditary trait that can be passed down through many generations.

A DNA test might help you know more about certain traits related to your hair health. While LifeDNA test results are not meant to diagnose any disease, your DNA analysis, however, can give you insights into your possible genetic predisposition for early on-set male pattern baldness or early AGA and what you can do to manage the risk.

Genetic Factors

One of the most significant indicators of male pattern baldness risk is the family history. Individuals with close relatives, particularly on the maternal side (mother’s father), who experienced male-pattern baldness, are more likely to inherit the genetic predisposition.

The Androgen Receptor (AR) Gene, located on the X chromosome, is a key genetic factor in this hair condition. Variations in this gene can make hair follicles more sensitive to the hormone dihydrotestosterone (DHT), which leads to the shrinking of follicles and the production of shorter, finer hair.

The Genome-Wide Association Studies (GWAS) have identified multiple other genetic markers associated with AGA as well. These studies have shed light on the complex genetic underpinnings of the condition, involving numerous genes and genetic variants. These Genes and SNPs include SNPs rs2497938 (AR), rs6047844 (PAX1, FOXA2), rs2180439 (LINC01432, RPL41P1), rs9287638 (HDAC4), rs2073963 (HDAC9), rs12565727 (TARDBP), rs12373124 (Intergenic), rs6945541(AUTS2), rs10502861 (SETBP1).

Non-Genetic (Environmental) Factors

Male pattern baldness is largely inherited, although hormonal, environmental, and lifestyle variables can also have an impact on how the illness manifests. These factors can interact with genetic predispositions, influencing the onset and severity of the condition.

In people who are genetically susceptible to hair loss, hormonal imbalances, particularly high levels of dihydrotestosterone (DHT), can hasten the process. DHT is a testosterone-derived hormone that can cause hair follicles to shrink, resulting in thinner and shorter hair. Another important non-genetic contributing element to male pattern baldness is aging. As people age, hair loss frequently becomes more obvious, and both the pace and degree of hair loss tend to accelerate.

Chronic stress can accelerate male pattern baldness in those who are vulnerable to it and also lead to hair loss in general. Hormones associated with stress can alter the natural cycle of hair development and increase shedding. Additionally, unhealthful eating habits and nutritional deficiencies, such as a lack of vitamins and minerals necessary for healthy hair (such as biotin, iron, and zinc), can accelerate hair loss.

Some drugs, such as those prescribed for depression, hypertension, and cancer, can also cause hair loss as a side effect, which could make male pattern baldness worse. It’s important to note that while these non-genetic factors can contribute to male pattern baldness, they do not cause the condition on their own. Instead, they often exacerbate hair loss in individuals who are genetically predisposed to it.

Can you reverse male pattern baldness naturally?

Although there are no 100% effective natural treatments for AGA, several strategies might be helping to reduce hair loss and support healthy hair. While these natural approaches may complement a comprehensive hair care routine, they are unlikely to fully reverse male pattern baldness, especially in advanced stages.

Healthy hair can be supported by eating a balanced diet that is high in vitamins, minerals, and proteins. Beneficial nutrients include biotin, iron, zinc, and omega-3 fatty acids. Additionally, maintaining hydration and controlling stress can lessen hair loss.

(Other) hair care regimens could be beneficial as well. Regular scalp massage may increase blood flow to the hair follicles and may encourage hair growth. Avoid using excessive heat styling equipment, harsh hair products, and tight hairstyles because these things can harm hair and make hair loss worse.

Superfoods are also said to help with hair loss. Aloe vera, onion juice, and essential oils like peppermint and rosemary have all been investigated for their potential to encourage hair growth. Their effectiveness is still being studied.

Can you prevent male pattern baldness?

To a limited extent, certain tactics and lifestyle modifications may help postpone or lessen the onset and severity of male pattern baldness. A balanced diet full of vital minerals, such as biotin, iron, and zinc, helps support healthy hair. A healthy body weight and being hydrated can both be helpful.

Hair loss can also be significantly influenced by ongoing stress. Its effects could be lessened by practicing stress-reduction exercises like yoga, meditation, or regular exercise. Avoid using harsh hair products, tight hairstyles, and excessive heat styling because they can harm hair and cause hair loss.

The FDA has approved prescription drugs including finasteride and minoxidil for the treatment of male pattern baldness. In certain people, they might help decrease hair loss and encourage regrowth. When medical therapies like minoxidil or finasteride are started as soon as hair loss symptoms are identified, hair preservation may be improved.

Is male pattern baldness genetic?

AGA is primarily inherited from one’s parents and can be passed down through generations. Genetic predisposition to male pattern baldness is influenced by a combination of multiple genes, making it a complex trait.

From which parent is it inherited?

Male pattern baldness is primarily inherited through genetic factors that can be passed down from both parents, but the inheritance pattern is more complex than a simple “from one parent” scenario. While the genes responsible for male pattern baldness can be inherited from either parent, research suggests that the condition may be influenced by multiple genetic factors from both maternal and paternal sides of the family.

The androgen receptor gene (AR) located on the X chromosome plays a significant role in male pattern baldness. Sons inherit one X chromosome from their mother and one Y chromosome from their father.

If a mother carries genetic variations associated with male pattern baldness on one of her X chromosomes, she can pass that predisposition on to her son. However, this doesn’t mean that the father’s genes are irrelevant; they also contribute to the son’s genetic makeup and can influence the likelihood and severity of male pattern baldness.

How can LifeDNA help you manage male pattern baldness?

In controlling some disorders, including AGA and hair loss, genetics is crucial. It even has an impact on how they develop in the first place. LifeDNA provides complete and detailed information about a variety of areas of your wellness, including how they relate to your genetic makeup. Want to learn more about your potential state of wellness? Try LifeDNA now.

What are the different treatment options for male pattern baldness?

Several treatments can lessen hair loss and, in certain situations, encourage hair regrowth. The efficacy and methodology of these treatments differ. Numerous drugs are either available over-the-counter or require a doctor’s prescription.

Minoxidil is an OTC topical medicine with FDA approval that comes in different formulations (liquid, foam). It has been demonstrated to encourage hair regrowth and reduce hair loss in many people when administered straight to the scalp. Oral prescription drug finasteride blocks the hormone dihydrotestosterone (DHT), which is the cause of the hair follicles shrinking in men with male pattern baldness. For many men, it works well at slowing hair loss and even encouraging regrowth.

Additional therapies for AGA include low-level lasers or light-emitting diodes that are used in Low-Level Laser Therapy (LLLT) such as laser combs and helmets to stimulate hair follicles and encourage hair growth. Even though results can vary, some people benefit from LLLT.

In a more invasive treatment regimen, a small amount of the patient’s blood is drawn, processed to concentrate the platelets, and then used to create platelet-rich plasma (PRP), which is subsequently injected into the scalp. It is assumed that it will activate hair follicles and encourage hair growth. Lastly, hair follicles from donor areas (usually the back or sides of the head) can be transplanted to balding or thinning areas during hair transplant surgery operations. This can be a durable remedy for regrowing hair in particular scalp areas.

Can male pattern baldness be cured with gene editing?

While gene editing has not been established as a cure for male pattern baldness or AGA, and its use for hair loss is still in the experimental and research phase, gene editing techniques such as CRISPR-Cas9 have shown promise in various other medical applications.

The androgen receptor gene and other genes involved in the development of the disorder, like the SRD5A2 gene, might be modified specifically using CRISPR-Cas9. These modifications could include additions, deletions, and tweaks.

With the aid of a guide RNA, the Cas9 enzyme in CRISPR-Cas9 functions as “molecular scissors” to cut DNA at a precise spot. Using standard protein-carrier methods, it is difficult to properly transport Cas9 to the dermal papilla cells in the hair follicle in cases of androgenic alopecia.

To overcome this problem, scientists have created a microbubble-based carrier system that uses ultrasound to deliver Cas9 complexed with single-carrier RNA to the hair follicle. In an animal model, topical treatment of the nanoparticle system was demonstrated to increase hair growth. As a first step toward establishing the technique as a standard, these results, which were announced in 2020, are encouraging.

The various genetic causes of male pattern baldness are still being investigated by researchers, and there is interest in creating novel therapies based on a deeper knowledge of the genes playing a role in this condition. It is to be noted that the use of gene editing for cosmetic objectives, such as hair regeneration, will be subject to ethical, safety, and regulatory concerns.

Summary

Androgenetic alopecia (AGA), another name for male pattern baldness, is a specific type of hair loss. This genetic condition is characterized by thinning and persistent hair loss.
This disease is associated with the hormone dihydrotestosterone (DHT), which can shrink hair follicles and lead them to produce shorter and finer hair.
Male pattern baldness often starts with receding hairlines at the temples and thinning hair on top of the head.
Male pattern baldness can start at various ages, and the genetic, hormonal, and individual factors that influence it can affect the timing
Family history of this condition is one of the most important predictors of male pattern baldness risk.
Although hormonal, environmental, and lifestyle factors can also affect how the condition presents itself, male pattern baldness is largely inherited.
Even though there are currently no natural AGA therapies that are 100% successful, several methods may be attempted to slow hair loss and promote healthy hair.
Researchers are still looking into the many genetic factors that contribute to male pattern baldness, and there is interest in developing new treatments based on a better understanding of these genes involved.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

References

DNA and Skincare: The Genetics of Psoriasis

Aira on August 8, 2024

Many skin conditions plague millions of people all over the world. Some of them are more serious than others, causing changes in lifestyle and the quality of life of the individual who has them. One of the most common skin conditions is psoriasis. Although technically, psoriasis is an autoimmune disease, its effects are most commonly seen in a person’s physical appearance.

Psoriasis has a high likelihood of being hereditary, meaning that genetics play a role in the development of this disorder. Genetic testing for psoriasis can help you determine whether you are at risk or not. LifeDNA offers full and comprehensive information about your skincare and its relationship with your genetic variation.

Psoriasis and Other Genetic Skin Traits

Psoriasis can cause inflammation, redness, and itchy scale-like scabbing on the skin, scalp, knees, elbows, hands, feet, and other parts of the body. As your body produces new skin cells, the immune cells in your blood mistake them for foreign invaders and attack these new skin cells which causes an overproduction of new skin cells beneath your skin. They force out the existing skin cells which results in scabbing and a scale-like appearance of the skin.

According to studies, genetics play an important role in determining if a person will develop psoriasis or not. While there are cases wherein a person with psoriasis has no family history of the disease, the likelihood of developing it goes up to 50 percent if one or both parents has a history of the autoimmune disorder.

Psoriasis is also more commonly seen in adults compared to eczema which is often diagnosed in children. The two can be very similar in symptoms so a dermatologist may need to run multiple tests to be sure. Excessive stress and allergens can also be contributing factors to developing psoriasis.

Other skin conditions can also be genetic. Some of them can cause extreme pain or discomfort and affect an individual’s self-esteem. Knowing more about DNA skincare can help you manage these conditions or prevent them from developing.

Acne

A common skin condition mostly seen as a dilemma for teenagers and young adults, acne may vary in severity. When the skin produces too much sebum, your follicles can clog and pimples may form. These pimples may multiply and be inflamed for a period of time. Acne can be uncomfortable but is highly treatable.

Facial Wrinkles

As the dreaded evidence of aging, wrinkles are considered an enemy of many people. They can be the result of lifestyle, sun damage, smoking, excessive alcohol, and genetics. They appear as fine lines and skin furrows, giving the skin an “old-weathered” look.

Varicose Veins

Varicose veins (VVs) commonly appear on the legs. They are swollen and twisted veins that can be a pain both medically and aesthetically. They can cause swelling of the legs and feet as well. While not usually painful, they can cause muscle cramps, swelling, and itching.

Rosacea

A chronic condition, rosacea is an inflammatory skin condition. It primarily affects areas of the face such as the cheeks, forehead, nose, and chin. It is most common and evident in fair-skinned people because they cause the skin to appear red, flushed, and sometimes a bit swollen. While not curable, rosacea is manageable with certain topical and oral medications.

Want to know more about your genetic likelihood of developing psoriasis and unlock personalized skincare suggestions to help prevent and manage this condition? Unlock LifeDNA’s DNA skincare report today.

Personalized Beauty Insights from LifeDNA’s DNA Skincare Test

Skincare is one of the most popular and valuable industries in the world today. There are thousands upon thousands of beauty and cosmetic companies that produce millions of skincare products. If you suspect you are prone to certain skin conditions due to your genetic variation, try a skin DNA test.

A skincare routine will highly depend on your skin’s suitability. Genetics will also play an important role in managing certain skin conditions and even influence their development in the first place. Want to get reveal your most beautiful complexion based on personalized skincare insights? Try LifeDNA today.

Hashimoto’s Disease: Unravelling the Intricate Genetics

Aira on August 8, 2024

Hashimoto disease (HD), also known as Hashimoto’s thyroiditis, is an autoimmune condition in which the immune system mistakenly attacks the thyroid gland.

The thyroid gland is a small, butterfly-shaped gland located in the neck that produces hormones regulating metabolism, heart rate, and body temperature. In HD, chronic inflammation damages the thyroid, leading to reduced hormone production, a condition called hypothyroidism.

This condition is more common in women and often develops gradually, with symptoms such as fatigue, weight gain, sensitivity to colds, hair loss, and depression. Diagnosis is typically made through blood tests measuring thyroid hormone levels and the presence of thyroid antibodies. While Hashimoto’s disease cannot be cured, its associated hypothyroidism can be managed with synthetic thyroid hormones to restore normal hormone levels.

You may also like: Understanding the genetics of thyroid function

Is Hashimoto’s Disease the Same as Hypothyroidism?

Hashimoto disease and hypothyroidism are closely related but not the same. Hashimoto disease is an autoimmune disorder where the immune system attacks the thyroid gland, leading to inflammation and gradual thyroid dysfunction. This destruction over time results in hypothyroidism, a condition where the thyroid cannot produce sufficient hormones to regulate the body’s metabolism.

In other words, HD is the cause, while hypothyroidism is the effect. Not all hypothyroidism is caused by Hashimoto’s. Other factors, such as iodine deficiency or certain medications, can also lead to an underactive thyroid. Hashimoto’s is one of the most common causes of hypothyroidism in developed countries.

Hashimoto’s Disease & Grave’s Disease

Researchers often study HD along with another autoimmune thyroid condition called Grave’s disease (GD). HD and GD affect the thyroid gland in opposite ways. In contrast to HD, Graves’ disease causes the immune system to overstimulate the thyroid, leading to hyperthyroidism, where the thyroid produces too much hormone. This results in symptoms such as weight loss, rapid heartbeat, and anxiety.

Prevalence & Risk Factors

Hashimoto disease is the most common cause of hypothyroidism in many parts of the world, especially in areas with sufficient iodine intake. It affects an estimated 5% of the general population, with a higher prevalence in women than men. Women are about 7-10 times more likely to develop Hashimoto’s, particularly between the ages of 30 and 50. The prevalence of HD tends to increase with age, and it is more common in individuals with a family history of thyroid or autoimmune disorders.

While it can occur in men and children, it is significantly rarer in those groups. Environmental factors, such as excessive iodine intake, radiation exposure, and chronic stress, can also influence the development of HD. Genetic predisposition plays a strong role, but lifestyle and environmental factors may also contribute.

Genetics of Hashimoto’s Disease

Hashimoto disease has a strong genetic component, as it tends to run in families. Studies have identified several genetic markers associated with increased susceptibility to autoimmune thyroid diseases, including Hashimoto’s. A 2021 population-based twin study put the heritability estimate of this condition at 65%.

Multiple genes have been identified as being linked to the onset, progression, and severity of the disease. Key gene variants include those related to human leukocyte antigen (HLA), cytotoxic T lymphocyte antigen-4, protein tyrosine phosphatase non-receptor type 22, thyroglobulin, the vitamin D receptor, and various cytokines, all of which are regarded as highly significant for this condition.

HLA

HLAs (human leukocyte antigens) are coded by a group of genes that help the immune system recognize which cells belong to the body and which are foreign, like bacteria or viruses. These genes play an important role in immune system function and are involved in autoimmune diseases.

A study conducted between 2019 and 2021 in northwestern Transylvania (Romania) explored the genetic susceptibility of autoimmune thyroid diseases (AITD) by examining the correlations between HLA class II alleles, specifically HLA-DRB1 and HLA-DQB1, in patients with HD and GD compared to a control group. Using molecular biology methods like SSP-PCR and PCR-SSO to analyze DNA samples, the study found that the HLA-DRB103/16 genotype was a susceptibility factor for HD, while the HLA-DRB103 allele, DRB103/16 genotype, and DRB103/DQB106 haplotype increased risk for GD. Additionally, the HLA-DRB113 allele appeared to offer protection against both HD and GD. These findings may help with the prevention and early detection of AITD by identifying specific genetic markers linked to disease development.

CTLA4

CTLA4 (cytotoxic T-lymphocyte antigen-4) is a protein found on T-cells, a type of immune cell. It helps control the immune system by slowing down or stopping T-cells from being too active, preventing them from attacking the body’s own tissues. This is important for keeping the immune system in balance and avoiding autoimmune diseases.

A 2007 study aimed to provide large-scale evidence on whether CTLA4 gene polymorphisms, specifically A49G (rs231775) and CT60 (rs3087243), increase the risk of HD and GD. Meta-analyses were conducted using data from 32 studies for GD 12 studies for HD on A49G, and 15 studies for GD and six for HD on CT60. Group-level data revealed significant associations between the G-allele of both polymorphisms and increased risk for GD and HD, with odds ratios suggesting higher susceptibility for both conditions. The associations were consistent across subjects of Asian and European descent. Additionally, individual-level data showed that the GG-haplotype increased the risk of GD and HD compared to the AA-haplotype. The study concluded that the CT60 polymorphism in CTLA4 is a key genetic factor contributing to the risk of GD and HD in diverse populations.

PTPN22

PTPN22 (protein tyrosine phosphatase non-receptor type 22) is a protein that helps control the immune system by regulating the activity of immune cells. Polymorphisms in its gene can affect how the immune system functions, sometimes leading to autoimmune diseases, where the body mistakenly attacks its own healthy tissues, such as thyroid diseases and type 1 diabetes. A 2011 study identified the minor allele of the SNP rs12730735 to be significantly associated with HD. These findings suggest that PTPN22 gene polymorphisms may contribute to HD risk at least in the Korean population.

Is Hashimoto’s Disease Curable?

Currently, Hashimoto’s disease is not curable. As an autoimmune disorder, once the immune system starts attacking the thyroid, the damage is often permanent. Even though the underlying autoimmune process cannot be reversed, the symptoms of hypothyroidism caused by Hashimoto’s disease can be effectively managed with lifelong hormone replacement therapy. This treatment involves taking synthetic thyroid hormone (levothyroxine) to normalize thyroid hormone levels in the body. Regular monitoring and dosage adjustments are essential to ensure optimal hormone levels and symptom control. While there is no cure for Hashimoto’s, with proper management, most individuals can live normal, healthy lives.

Can You Prevent Hashimoto’s Disease?

Hashimoto’s disease cannot be fully prevented, as genetics play a significant role in its development. However, certain lifestyle choices and environmental factors might help lower the risk or delay the onset of the disease. Maintaining a balanced diet, managing stress, and avoiding excessive iodine intake can support thyroid health. Since Hashimoto’s disease is an autoimmune condition, limiting exposure to environmental toxins, supporting gut health, and managing chronic inflammation may also help reduce the risk of triggering the disease. Regular monitoring of thyroid function, particularly for individuals with a family history of thyroid issues, can aid early detection and treatment. While prevention isn’t entirely possible, early intervention can minimize the impact of the disease on thyroid function.

LifeDNA Thyroid Function Report

The thyroid is one of the body’s most vital endocrine glands. Understanding your genetic variation in genes related to your general thyroid function may help you take care of this critical gland.. Get your LifeDNA report here.

Summary

HD is an autoimmune condition where the immune system attacks the thyroid gland, leading to hypothyroidism. It is more common in women and develops gradually, causing symptoms like fatigue, weight gain, and depression. While not curable, it can be managed with synthetic thyroid hormones. Hashimoto’s is often studied alongside GD, another autoimmune thyroid condition that leads to hyperthyroidism. Genetic factors, such as polymorphisms in the CTLA4 and PTPN22 genes, have been linked to an increased risk of HD. Research has identified specific gene variants, including certain HLA-alleles, that influence susceptibility to both HD and GD. Prevention of Hashimoto’s is not fully possible due to its strong genetic component, but lifestyle changes may help reduce risk or delay onset.

References

Exploring Fibromyalgia’s Genetic Roots: Can It Be Inherited?

Aira on August 7, 2024

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

Fibromyalgia is a complex and often misunderstood condition characterized by widespread musculoskeletal pain, fatigue, and other debilitating symptoms. For those who struggle with its effects, finding answers can feel like piecing together a challenging puzzle. One intriguing question that has emerged in recent research is whether fibromyalgia might have a genetic component.

What is Fibromyalgia?

Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain, fatigue, and tenderness in localized areas known as tender points. This disorder affects approximately 2 to 4% of the population, with a higher prevalence in women compared to men. The exact cause of fibromyalgia remains unclear, but it is believed to involve a combination of genetic, environmental, and neurobiological factors.

Scientific research suggests that fibromyalgia may alter the way the brain processes pain signals, resulting in heightened sensitivity to pain stimuli. Individuals with fibromyalgia often experience symptoms such as sleep disturbances, cognitive difficulties (sometimes referred to as “fibro fog“), and mood disorders like depression and anxiety.

Genetic studies indicate that fibromyalgia may have a hereditary component, as the condition often clusters in families. Variations in certain genes related to pain processing and immune response may increase susceptibility to the disorder.

However, genetic predisposition alone does not determine whether an individual will develop fibromyalgia; environmental factors and personal health history also play crucial roles. Understanding these aspects of fibromyalgia can provide valuable insights into how genetics and lifestyle interact to influence health outcomes.

How is Fibromyalgia Diagnosed?

Diagnosing fibromyalgia involves a comprehensive evaluation since there are no specific laboratory tests to confirm the condition. The diagnosis is primarily based on clinical criteria and a thorough assessment of symptoms.

Healthcare providers typically start by reviewing the patient’s medical history and conducting a physical examination. A key component of the diagnosis is identifying widespread pain that persists for at least three months, affecting multiple areas of the body. According to the American College of Rheumatology (ACR) guidelines, the presence of pain in at least 11 of 18 designated tender points is used to support the diagnosis, although the criteria have evolved to focus more on symptom severity and duration rather than tender point counts alone.

Additionally, doctors may rule out other conditions with similar symptoms, such as rheumatoid arthritis or chronic fatigue syndrome, through blood tests and imaging studies. The diagnostic process often includes assessing other symptoms, such as sleep disturbances, cognitive issues, and mood changes, to ensure a comprehensive evaluation.

Understanding the diagnostic process is crucial for those exploring how genetic and lifestyle factors might influence the development and management of fibromyalgia.

What are the Symptoms of Fibromyalgia?

Fibromyalgia is characterized by a range of symptoms that can significantly impact daily life. These symptoms include:

Widespread Pain: The hallmark of fibromyalgia is persistent, widespread pain that affects multiple areas of the body. This pain often feels like a dull ache and can vary in intensity. It typically lasts for at least three months.
Fatigue: Individuals with fibromyalgia frequently experience severe fatigue that is not alleviated by rest. This fatigue can interfere with daily activities and is often described as feeling exhausted even after a full night’s sleep.
Sleep Disturbances: Many people with fibromyalgia suffer from disrupted sleep patterns, including difficulty falling asleep, staying asleep, or experiencing non-restorative sleep. This can exacerbate feelings of tiredness and affect overall health.
Cognitive Issues: Often referred to as “fibro fog,” these cognitive difficulties include problems with concentration, memory, and mental clarity. This symptom can make it challenging to perform daily tasks and affect quality of life.
Tender Points: Historically, fibromyalgia diagnosis involved identifying pain in specific tender points on the body. While the emphasis has shifted to broader symptoms, these areas of increased sensitivity remain a characteristic feature.
Mood Disorders: Depression and anxiety are common among individuals with fibromyalgia. Chronic pain and fatigue can contribute to these mood changes, impacting emotional well-being.
Other Symptoms: Additional symptoms can include headaches, irritable bowel syndrome (IBS), and temporomandibular joint (TMJ) disorders. Individuals may also experience numbness or tingling in their extremities.

Understanding these symptoms is important for those exploring how genetic and lifestyle factors may influence the manifestation and management of fibromyalgia.

What are the Triggers of Fibromyalgia?

Fibromyalgia symptoms can be triggered or exacerbated by various factors, although the specific mechanisms are not fully understood. Key triggers include:

Stress: Emotional or psychological stress is a significant trigger, as it can affect pain perception and exacerbate symptoms. Chronic stress may also influence the body’s pain processing systems.
Physical Trauma: Events such as car accidents or surgeries can precipitate fibromyalgia in some individuals. Trauma might affect pain sensitivity and contribute to the onset of symptoms.
Infections: Certain viral or bacterial infections have been linked to the onset of fibromyalgia. These infections can disrupt immune system functioning and contribute to chronic pain.
Sleep Disturbances: Poor sleep quality or sleep disorders, such as insomnia, can worsen fibromyalgia symptoms. Adequate rest is crucial for managing the condition.
Physical Exertion: Overexertion or intense physical activity can lead to increased pain and fatigue. Balance and moderate exercise are recommended to manage symptoms.
Weather Changes: Some individuals report that changes in weather, particularly cold or damp conditions, can trigger or intensify symptoms.
Hormonal Fluctuations: Hormonal changes, including those related to menstruation or menopause, can influence symptom severity.

Understanding these triggers is important for managing fibromyalgia and exploring how genetic and lifestyle factors might play a role in symptom development and management.

What Other Factors Affect Fibromyalgia?

Fibromyalgia is influenced by a variety of factors that go beyond genetics, affecting symptom severity and overall management. While the exact cause remains unclear, understanding these additional factors can provide insight into how they interact with an individual’s predispositions, lifestyle, and environment.

Stress and Trauma

Psychological and physical stress are significant contributors to fibromyalgia. Emotional stress, such as anxiety, depression, or traumatic events, can heighten the body’s pain perception and exacerbate symptoms. Physical trauma, like accidents, surgeries, or infections, may also trigger the onset of fibromyalgia in genetically predisposed individuals. Chronic stress disrupts the hypothalamic-pituitary-adrenal (HPA) axis, which regulates stress responses and pain, further intensifying symptoms.

Hormonal Imbalances

Hormonal fluctuations, especially in women, can influence fibromyalgia symptoms. Many individuals report worsening symptoms during menstruation, pregnancy, or menopause. Research indicates that abnormalities in stress-related hormones, such as cortisol, and lower levels of serotonin and growth hormones, contribute to pain sensitivity and fatigue.

Sleep Disturbances

Fibromyalgia is closely linked to sleep issues, including insomnia, restless leg syndrome, and non-restorative sleep. Poor sleep quality exacerbates pain, fatigue, and cognitive issues. Studies show that sleep deprivation impairs the body’s ability to regulate pain, creating a cycle of worsening symptoms.

Infections

Viral or bacterial infections may trigger fibromyalgia in some individuals. Infections like Epstein-Barr virus (EBV), Lyme disease, and hepatitis C have been linked to the development of chronic pain conditions. These infections can disrupt immune system function and trigger widespread inflammation, contributing to fibromyalgia symptoms.

Environmental Factors

Weather conditions, particularly cold, damp, or humid environments, have been reported to worsen fibromyalgia symptoms. Sudden changes in temperature or barometric pressure may increase pain sensitivity in individuals with fibromyalgia.

Psychological Health

Mental health plays a critical role in managing fibromyalgia. Conditions such as anxiety and depression are commonly associated with fibromyalgia, and their presence can exacerbate pain perception and fatigue. Addressing these mental health challenges through therapies like cognitive-behavioral therapy (CBT) can significantly improve symptom management.

Diet and Nutrition

While there is no specific diet for fibromyalgia, nutritional imbalances may worsen symptoms. Diets high in processed foods, sugars, and unhealthy fats can contribute to inflammation and pain. Maintaining a well-balanced diet rich in antioxidants, vitamins, and minerals supports overall health and can help manage symptoms.

Understanding these factors and their interaction with genetic predispositions helps individuals make informed decisions about managing fibromyalgia. Lifestyle modifications, stress management, and addressing hormonal and environmental influences can significantly reduce symptom severity and improve daily life.

Is Fibromyalgia a Physical or Mental Disorder?

Fibromyalgia is a complex condition that encompasses both physical and mental aspects, making it challenging to categorize it strictly as either a physical or mental disorder.

Physically, fibromyalgia is characterized by widespread musculoskeletal pain, fatigue, and tenderness in specific areas known as tender points. Research indicates that the condition involves alterations in the way the brain and spinal cord process pain signals, leading to heightened sensitivity and persistent discomfort.

On the mental health front, individuals with fibromyalgia often experience symptoms such as depression, anxiety, and cognitive difficulties. These mental health issues are not merely secondary to the physical symptoms but are deeply intertwined with them. The chronic pain and fatigue associated with fibromyalgia can significantly impact mood and cognitive function, exacerbating mental health challenges.

Scientific studies suggest that fibromyalgia is best understood as a disorder with both physical and psychological dimensions. Its management often requires a comprehensive approach addressing both pain relief and mental well-being. Understanding this dual nature can help individuals explore how genetic predispositions and lifestyle factors might influence their experience of fibromyalgia and guide effective treatment strategies.

Can Fibromyalgia Be Cured?

Currently, there is no cure for fibromyalgia, but its symptoms can be effectively managed through a combination of treatments. Fibromyalgia is a chronic condition, meaning that it persists over time, although symptom severity can vary. The goal of treatment is to reduce pain, improve sleep, and enhance overall quality of life.

Management strategies typically include a combination of medication, lifestyle changes, and non-pharmacological therapies. Medications such as pain relievers, antidepressants, and anticonvulsants are commonly prescribed to manage pain and improve mood.

While genetics may influence an individual’s predisposition to fibromyalgia, environmental factors such as stress, trauma, and infections also play a role. Understanding how these factors interact can help individuals develop personalized strategies for managing their symptoms.

Although fibromyalgia cannot be cured, many people can lead fulfilling lives by adopting a holistic approach to treatment that addresses both physical and mental well-being, emphasizing the importance of lifestyle modifications alongside medical care.

What to Avoid When Diagnosed with Fibromyalgia?

When diagnosed with fibromyalgia, managing symptoms effectively involves understanding not only what to do but also what to avoid. Certain activities, habits, and triggers can worsen fibromyalgia symptoms, making it important to recognize and limit exposure to them.

Physical Inactivity: While the chronic pain and fatigue of fibromyalgia can make physical activity seem daunting, avoiding movement can lead to muscle stiffness, increased pain, and worsened symptoms. Engaging in low-impact exercises, such as walking, swimming, or yoga, helps maintain muscle flexibility and can improve pain levels over time.
Overexertion: On the other hand, overexertion can exacerbate symptoms. High-intensity exercise or excessive physical activity can lead to flare-ups of pain and fatigue. It is essential to find a balance by incorporating moderate, consistent exercise routines that align with one’s energy levels.
Poor Sleep Habits: Sleep disturbances are a common feature of fibromyalgia, and poor sleep hygiene can aggravate fatigue and cognitive issues. Avoiding irregular sleep schedules, excessive screen time before bed, and stimulants like caffeine in the evening can improve sleep quality.
Stress and Emotional Strain: Chronic stress is a well-known trigger for fibromyalgia flare-ups. Stress increases the body’s sensitivity to pain and can worsen symptoms. Avoiding high-stress situations or implementing stress-reduction techniques, such as meditation, breathing exercises, or cognitive-behavioral therapy (CBT), can help manage emotional triggers.
Unhealthy Diet Choices: While no specific diet is recommended for fibromyalgia, processed foods, excess sugar, and refined carbohydrates may contribute to inflammation and worsen symptoms. Maintaining a balanced, nutrient-rich diet with whole grains, lean proteins, and plenty of fruits and vegetables can support overall well-being.
Isolation: Emotional support plays a crucial role in managing fibromyalgia. Avoiding isolation and seeking support from family, friends, or fibromyalgia support groups can reduce feelings of loneliness and encourage.

By recognizing and avoiding these factors, individuals with fibromyalgia can better manage their symptoms and improve their overall quality of life. Understanding the role of genetics and lifestyle factors in symptom triggers can also guide personalized management strategies.

Ways to Manage Fibromyalgia

Managing fibromyalgia requires a comprehensive approach that addresses both physical and mental health. While there is no cure for the condition, a combination of lifestyle changes, therapies, and medical treatments can help reduce symptoms and improve quality of life. Here are effective ways to manage fibromyalgia:

Medication

Several medications can help alleviate fibromyalgia symptoms. Pain relievers such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) may be recommended for mild pain.

Prescription medications like pregabalin, duloxetine, and milnacipran are FDA-approved specifically for fibromyalgia and help reduce pain and improve function by regulating brain chemicals involved in pain perception. Antidepressants and anticonvulsants are also commonly prescribed to manage pain and address mood disorders like depression and anxiety, which are often associated with fibromyalgia.

Exercise

Regular physical activity is one of the most effective ways to manage fibromyalgia symptoms. Low-impact aerobic exercises such as walking, swimming, or biking can help improve muscle strength, reduce pain, and enhance energy levels. Stretching exercises and yoga may also improve flexibility and reduce muscle stiffness. It’s important to start slow and gradually increase activity levels to avoid overexertion, which can lead to flare-ups.

Sleep Hygiene

Getting quality sleep is critical in managing fibromyalgia. Establishing a regular sleep schedule, creating a calming bedtime routine, and reducing screen time before bed can improve sleep quality. Additionally, avoiding stimulants such as caffeine or alcohol before bedtime is beneficial for reducing sleep disturbances.

Stress Management

Chronic stress can worsen fibromyalgia symptoms, making stress reduction a key aspect of management. Cognitive-behavioral therapy (CBT) has been shown to help patients manage stress and cope with chronic pain. Mindfulness meditation, deep-breathing exercises, and progressive muscle relaxation techniques can help reduce stress levels and promote relaxation.

Diet and Nutrition

While no specific diet is proven to treat fibromyalgia, eating a balanced, nutrient-dense diet can improve overall health. Foods rich in antioxidants, omega-3 fatty acids, and fiber can reduce inflammation, while unhealthy foods such as processed foods, sugar, and refined carbohydrates may exacerbate symptoms. Staying hydrated and maintaining a healthy weight can also reduce stress on muscles and joints.

Cognitive Support

Cognitive difficulties, or “fibro fog,” can impact concentration and memory. Incorporating brain-stimulating activities such as puzzles, reading, or learning new skills may help maintain cognitive function. Adequate rest and reduced mental stress can also alleviate fibro fog.

Alternative Therapies

Complementary treatments such as acupuncture, massage therapy, and chiropractic care may offer relief from pain and muscle tension. These therapies are often used alongside conventional medical treatments for enhanced symptom management.

Understanding that genetics, lifestyle, and environmental factors can influence fibromyalgia symptoms allows individuals to personalize their management plans. By combining medical treatments with lifestyle modifications, those living with fibromyalgia can take control of their symptoms and improve their overall quality of life.

Summary

Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain, fatigue, and tenderness in specific areas. It affects about 2 to 4% of the population, with a higher prevalence in women.
The exact cause of fibromyalgia is not fully understood but is believed to involve a mix of genetic, environmental, and neurobiological factors.
The condition alters the way the brain processes pain signals, leading to increased pain sensitivity. Common symptoms include sleep disturbances, cognitive issues known as “fibro fog,” and mood disorders like depression and anxiety.
Fibromyalgia may have a genetic component, with evidence showing it often clusters in families and involves variations in genes related to pain processing and immune response. However, environmental factors and personal health history also play significant roles.
Diagnosis involves a comprehensive evaluation, as there are no specific laboratory tests for fibromyalgia. It relies on clinical criteria, including widespread pain lasting at least three months and the presence of other symptoms such as sleep disturbances and cognitive issues.
Symptoms of fibromyalgia include persistent widespread pain, severe fatigue, disrupted sleep, cognitive difficulties, tender points, mood disorders, and other issues like headaches and IBS.
Triggers of fibromyalgia include stress, physical trauma, infections, sleep disturbances, overexertion, weather changes, and hormonal fluctuations.
Factors affecting fibromyalgia include genetic predisposition, psychological and physical stress, hormonal imbalances, sleep issues, infections, environmental conditions, mental health, and diet.
Fibromyalgia is both a physical and mental disorder, characterized by chronic pain and psychological symptoms. Effective management requires addressing both aspects through a combination of medical treatments and lifestyle changes.
Although there is no cure for fibromyalgia, managing it involves medications, exercise, improving sleep quality, stress management, a balanced diet, cognitive support, and alternative therapies. Understanding how genetics and lifestyle factors interact can help in personalizing treatment plans.

References

Exploring the Genetic Impact on Hippocampal Volume

Aira on August 2, 2024

The hippocampus, a small yet mighty region of the brain, plays a crucial role in memory formation, learning, and even emotional regulation. But did you know that the size of your hippocampus — known as hippocampal volume — can vary significantly from person to person? And here’s the intriguing part: genetics may have a lot to do with it.

What is Hippocampal Volume?

Hippocampal volume refers to the size of the hippocampus, a crucial part of the brain involved in memory, learning, and spatial navigation. Located within the medial temporal lobe, the hippocampus is a small, seahorse-shaped structure that plays a pivotal role in converting short-term memories into long-term ones and in processing spatial information. Scientists often measure hippocampal volume to assess brain health and function, particularly in studies related to memory disorders like Alzheimer’s disease.

The size of the hippocampus can vary from person to person due to several factors, including age, lifestyle, and most notably, genetics. Research shows that genetic variation significantly influences hippocampal volume. Understanding these genetic factors is crucial as these can predispose individuals to cognitive decline or resilience, affecting how they learn, remember, and navigate their environments.

The hippocampal volume serves as a key indicator of cognitive health and for those interested in knowing how genetics can shape their daily lives,

understanding the underlying genetics can provide insights into their predisposition to memory-related conditions

What Brain System is the Hippocampus Part of?

The hippocampus is a vital part of the brain’s limbic system, which plays a key role in regulating emotions, memory, and certain cognitive functions. This system, located deep within the brain, is responsible for emotional responses, such as fear and pleasure, as well as forming and retrieving memories. The hippocampus itself is crucial for converting short-term memories into long-term ones and is involved in spatial navigation, helping individuals orient themselves in their environment.

Understanding the hippocampus’ role in the limbic system helps highlight how genetics, lifestyle, and experiences shape cognitive and emotional well-being. For those curious about how their genetic makeup affects brain health, the hippocampus serves as a central structure, influenced by both genetic and environmental factors, and is crucial for maintaining overall cognitive function.

How is Hippocampal Volume Measured?

Hippocampal volume is measured using advanced neuroimaging techniques that allow scientists to visualize and quantify the size of the hippocampus. The most common methods include:

Magnetic Resonance Imaging (MRI): MRI is the gold standard for measuring hippocampal volume. It uses powerful magnets and radio waves to create detailed images of the brain. These images are then analyzed using specialized software to calculate the volume of the hippocampus with high precision.
Voxel-Based Morphometry (VBM): VBM is a technique that analyzes brain MRI scans to measure the volume of specific brain regions, including the hippocampus. This method assesses differences in brain anatomy by comparing the density of gray matter across individuals.
Automated Segmentation Techniques: These methods use machine learning algorithms to automatically identify and segment the hippocampus in MRI scans, providing an accurate and efficient way to measure its volume.
Manual Tracing: In some cases, researchers manually trace the boundaries of the hippocampus on MRI images to calculate its volume. Although time-consuming, this method can be highly accurate when performed by trained experts.

Understanding how hippocampal volume is measured helps individuals appreciate how genetics might influence their brain structure, potentially affecting memory, learning, and overall cognitive function.

Normal Hippocampal Volume Values and What They Indicate

Normal hippocampal volume can vary based on age, sex, and overall brain size, but in adults, the hippocampus volume typically ranges between 2.5 to 4.5 cubic centimeters per hemisphere. Adequate hippocampal volume is crucial for maintaining cognitive functions like memory and spatial navigation. Generally, larger hippocampal volumes are associated with better memory performance and a lower risk of cognitive decline.

However, hippocampal volume naturally decreases with age. A reduction of about 1 to 2% per year is typical in older adults, which is considered a normal part of aging. Significant deviations from this pattern can indicate potential issues.

For instance, a smaller-than-average hippocampal volume has been linked to conditions like Alzheimer’s disease, where early atrophy in this region is a key marker. Conversely, maintaining a relatively larger hippocampal volume is often seen in individuals who engage in regular physical activity, have a healthy diet, and manage stress effectively.

Genetic Influences and Associations of Hippocampal Volume

APOE Gene

A groundbreaking study explored whether older adults with the ApoE ε4 allele, a strong genetic risk factor for Alzheimer’s disease (AD), show more brain volume loss over time compared to those with the ApoE ε2 allele, which can protect against cognitive decline. Researchers used tensor-based morphometry (TBM), a method for visualizing brain tissue changes, to track brain atrophy in 27 healthy adults aged 55–75.

Participants had baseline and follow-up MRI scans over an average of 4.72 years, and their ApoE genotypes were recorded. Sixteen participants had the ε3ε4 genotype, while eleven had the ε2ε3 genotype. Although all participants were cognitively normal, the ε4 group showed significantly higher rates of atrophy in the temporal lobe and hippocampus, with more volume loss in the right hippocampus.

This suggests that the ApoE ε4 allele is linked to greater brain shrinkage, particularly in regions critical for memory, even before cognitive issues appear. TBM proved useful for tracking these early changes, highlighting the role of the ε4 allele in brain aging.

Are High or Low Hippocampal Volumes Dangerous?

High or low hippocampal volumes can indicate different aspects of brain health, and understanding these variations is key to assessing potential risks. Generally, low hippocampal volume is more concerning.

A smaller hippocampus has been linked to memory impairments and an increased risk of neurological conditions such as Alzheimer’s disease and depression. Studies show that hippocampal atrophy, or shrinkage, often precedes the onset of these conditions, making it a significant early marker for cognitive decline.

On the other hand, a high hippocampal volume is typically not dangerous and is often associated with better cognitive health. Individuals with larger hippocampal volumes tend to perform better on memory and learning tasks and are less likely to experience age-related cognitive decline. Factors like physical exercise, a healthy diet, and engaging in mentally stimulating activities have been shown to contribute to maintaining or even increasing hippocampal volume.

However, unusually large hippocampal volumes are rare and could be associated with abnormal brain development, although this is not well understood and is generally not a common concern. For most people, maintaining a healthy hippocampal volume through lifestyle and genetic factors is important for cognitive health and well-being.

What Causes Reduced Hippocampal Volume?

Reduced hippocampal volume can result from a combination of genetic, environmental, and lifestyle factors. One of the most significant causes is aging, as the hippocampus naturally shrinks with age, losing about 1 to 2% of its volume each year in older adults. However, certain genetic factors can accelerate this process.

Chronic stress is another major contributor. Prolonged exposure to high levels of cortisol, the body’s stress hormone, can damage hippocampal neurons, leading to a reduction in volume. Conditions such as depression and post-traumatic stress disorder (PTSD) have also been linked to smaller hippocampal sizes, possibly due to stress-related neuronal damage.

Lifestyle choices, including physical inactivity, poor diet, and lack of mental stimulation, can further exacerbate hippocampal shrinkage. Conversely, regular exercise, a diet rich in antioxidants, and activities that challenge the brain can help protect against volume loss.

Overall, reduced hippocampal volume is a complex issue influenced by both genetics and lifestyle and understanding these factors is crucial for those looking to maintain cognitive health and reduce the risk of neurodegenerative diseases.

What are the Symptoms of Abnormal Hippocampal Volume?

Symptoms of abnormal hippocampal volume, whether reduced or enlarged, are often related to cognitive and emotional functions due to the hippocampus’s role in memory, learning, and emotional regulation. When hippocampal volume is reduced, several key symptoms may arise:

Memory Impairment: A smaller hippocampus is closely associated with difficulty forming new memories or recalling recent events, as seen in conditions like Alzheimer’s disease and mild cognitive impairment (MCI).
Learning Difficulties: Since the hippocampus is involved in learning processes, individuals with abnormal volume may struggle to retain new information or acquire new skills.
Emotional Dysregulation: Reduced hippocampal volume is linked to mood disorders such as depression, anxiety, and post-traumatic stress disorder (PTSD). These conditions often involve heightened stress responses or difficulty managing emotions.
Spatial Navigation Issues: Individuals may have trouble navigating familiar environments or understanding spatial relationships, a hallmark of hippocampal dysfunction.
Increased Risk of Cognitive Decline: Those with reduced hippocampal volume may experience faster cognitive decline with age, making early intervention important.

Conversely, unusually large hippocampal volumes are less common and not typically associated with negative symptoms but could indicate abnormal brain development, which requires further research to fully understand its effects.

Lifestyle Modifications to Maintain Hippocampal Volume

Maintaining a healthy hippocampal volume is essential for preserving cognitive function, memory, and emotional health. While genetics play a significant role in determining hippocampal size, lifestyle choices can also impact brain health, potentially offsetting genetic predispositions to hippocampal atrophy. Here are several scientifically backed lifestyle modifications that can help manage normal hippocampal volume:

Regular Physical Exercise

Engaging in consistent aerobic exercise, such as walking, running, or swimming, has been shown to promote the growth of hippocampal neurons and improve hippocampal volume. Even moderate exercise, such as 30 minutes of brisk walking several times a week, can significantly benefit hippocampal size.

Healthy Diet

A balanced diet rich in antioxidants, omega-3 fatty acids, and anti-inflammatory foods can help preserve hippocampal volume. The Mediterranean diet, which includes plenty of fruits, vegetables, whole grains, nuts, and fish, has been linked to better cognitive health and slower hippocampal atrophy. Omega-3 fatty acids, found in fish like salmon and walnuts, are particularly beneficial for brain function and have been associated with increased hippocampal volume.

Cognitive Stimulation

Challenging the brain with mentally stimulating activities helps to maintain hippocampal volume. Activities such as reading, solving puzzles, learning new skills, or playing strategy-based games can create new neural connections, enhancing hippocampal function and resilience. Lifelong learning and engagement in intellectually stimulating tasks have been shown to preserve brain health as people age.

Stress Management

Chronic stress is detrimental to hippocampal volume due to the release of high levels of cortisol, a hormone that can damage hippocampal neurons over time. Practices that reduce stress, such as mindfulness meditation, yoga, and deep-breathing exercises, can help lower cortisol levels and protect the hippocampus. Studies show that people who regularly engage in stress-reducing activities tend to maintain better hippocampal health over time.

Adequate Sleep

Quality sleep is essential for hippocampal health. During sleep, the brain consolidates memories and repairs damaged neurons, including those in the hippocampus. Chronic sleep deprivation is linked to hippocampal shrinkage and memory problems. Aiming for 7 to 9 hours of restful sleep each night is important for cognitive health and maintaining normal hippocampal volume.

Avoid Excessive Alcohol Consumption

Heavy alcohol consumption can lead to hippocampal atrophy. Studies indicate that chronic alcohol use damages hippocampal neurons, resulting in a decrease in volume over time. Reducing or eliminating alcohol intake can help preserve hippocampal structure and function.

Social Engagement

Staying socially active is another important factor for hippocampal health. Social interaction stimulates cognitive functions and helps reduce stress, both of which are beneficial for the hippocampus. Regular engagement with family, friends, or community groups can provide emotional support and mental stimulation, contributing to long-term cognitive health.

By adopting these lifestyle modifications, individuals can actively manage and maintain normal hippocampal volume, even if their genetics predispose them to hippocampal shrinkage. Combining these practices with genetic insights allows for a holistic approach to brain health, helping individuals protect their cognitive function and emotional well-being throughout life.

Summary

The hippocampus is critical for memory, learning, and emotional regulation, and its size, or hippocampal volume, can vary due to genetics, age, and lifestyle.
Hippocampal volume is measured using neuroimaging techniques like MRI, voxel-based morphometry (VBM), and automated segmentation, providing insights into brain health.
Normal hippocampal volume in adults ranges from 2.5 to 4.5 cubic centimeters per hemisphere, and larger volumes are associated with better memory and cognitive function.
The APOE ε4 allele is linked to greater brain atrophy in the hippocampus and temporal lobes, increasing the risk of cognitive decline even in asymptomatic adults.
Low hippocampal volume is more concerning, often signaling risks for Alzheimer’s, depression, and cognitive impairments, while high volume is typically a sign of cognitive resilience.
Factors like aging, chronic stress, depression, and poor lifestyle choices can lead to reduced hippocampal volume, while exercise, a healthy diet, and cognitive stimulation can help maintain it.
Symptoms of abnormal hippocampal volume include memory problems, learning difficulties, emotional dysregulation, and spatial navigation issues, especially when the hippocampus volume is reduced.

References

G6PD Deficiency: A Deep Dive Into The Genetics

Aira on July 15, 2024

What is G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that primarily affects red blood cells, which carry oxygen from the lungs to tissues in the body. By making NAPDH, this enzyme is also crucial in protecting red blood cells from oxidative damage. Mutations and common genetic variations in the G6PD gene can lead to a deficiency of the G6PD enzyme. When the G6PD enzyme levels and/or activity are low, red blood cells can break down prematurely, known as hemolysis.

Hemolysis can lead to hemolytic anemia, characterized by fatigue, jaundice, dark urine, and shortness of breath. G6PD deficiency is common in regions where malaria is prevalent, such as Africa, the Mediterranean, and Asia, where the inherited G6PD deficiency can offer protection against malaria. G6PD is also plays a key role in making ribose-5-phosphate, the building block of DNA and RNA.

How is G6PD Deficiency Inherited?

People inherit G6PD deficiency in an X-linked recessive pattern. The G6PD gene is on the X chromosome, one of the two sex chromosomes. Males have one X and one Y chromosome, while females have two X chromosomes. Males with a mutation in the G6PD gene on their single X chromosome will have G6PD deficiency. Females with one mutated G6PD gene are typically carriers and usually do not show symptoms because they have a second, normally functioning copy of the gene. However, if a female has mutations in both copies of the G6PD gene, she will exhibit symptoms of the deficiency. This mode of inheritance explains why G6PD deficiency is more common and often more severe in males than females.

Note: G6PD deficiency falls into a category of genetic conditions called Mendelian disorders. Mendelian disorders are genetic conditions that arise from mutations in a single gene. These conditions follow inheritance patterns first described by Gregor Mendel. They can be categorized as autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive categories based on how the mutated gene is inherited and expressed. Other examples of Mendelian disorders are cystic fibrosis and Marfan syndrome. We will review these in more depth in a future article.

Common G6PD Mutations

Known G6PD mutations are genetic alterations in the G6PD gene that lead to varying degrees of enzyme deficiency. These mutations can result in the malfunctioning or reduced activity of the G6PD enzyme.. Researchers have identified 400 distinct G6PD mutations, each affecting the enzyme’s activity to different extents.

G6PD A- (202A/376G)
- Prevalence: Common in African populations.
- Severity: Moderate deficiency (Class III).
- Clinical Manifestations: Intermittent hemolytic episodes, usually triggered by infections or certain drugs.

G6PD Mediterranean (563C>T)
- Prevalence: Common in Mediterranean regions (e.g., Italy, Greece).
- Severity: Severe deficiency (Class II).
- Clinical Manifestations: Acute hemolytic episodes, often triggered by fava beans, certain medications, or infections.

G6PD Canton (1376G>T)
- Prevalence: Found in East Asian populations.
- Severity: Severe deficiency (Class II).
- Clinical Manifestations: Similar to G6PD Mediterranean, with susceptibility to hemolysis due to oxidative stress.

G6PD Kaiping (1388G>A)
- Prevalence: Predominantly in Chinese populations.
- Severity: Moderate to severe deficiency (Class II/III).
- Clinical Manifestations: Acute hemolytic anemia triggered by infections or drugs.

G6PD Mahidol (487G>A)
- Prevalence: Common in Southeast Asian populations.
- Severity: Moderate deficiency (Class III).
- Clinical Manifestations: Mild to moderate hemolysis under oxidative stress.

G6PD Viangchan (871G>A)
- Prevalence: Southeast Asia, including Laos, Thailand, and Vietnam.
- Severity: Severe deficiency (Class II).
- Clinical Manifestations: Acute hemolytic episodes due to oxidative stress triggers.

Genetic Connection with Other Traits/Conditions

Malaria

Interestingly, G6PD deficiency and malaria resistance have a link. RBCs with low G6PD activity offer a hostile environment to the malaria parasite growth and therefore an advantage to G6PD deficiency carriers. Individuals with this deficiency are less likely to suffer from severe forms of malaria, which has influenced the prevalence of the G6PD mutation in malaria-endemic regions.

Given this overlap, a systematic review aimed to assess the protective association between G6PD deficiency and malaria. The results show a negative association between G6PD deficiency and uncomplicated falciparum in Africa (and) among heterozygotes but not in Asia or among homo/hemizygous individuals. The study suggests that G6PD deficiency may offer protection against uncomplicated malaria in African countries, primarily in heterozygous individuals, but not against severe malaria.

Heart Conditions

The role of G6PD deficiency, one of the most common inborn enzyme disorders is debated in cardiovascular diseases (CVDs) . Researchers have considered G6PD individuals as protected against CVDs. However, recent evidence suggests that G6PD deficiency may actually increase CVD risk. Studies using cellular, animal, and human models have produced conflicting results. According to a 2021 review study, the G6PD enzyme is crucial in antioxidant defense and the balance between oxidants and antioxidants within blood vessels. Hence, its deficiency may lead to vascular dysfunction, contributing to atherosclerosis onset and progression.

A research study published this month (July 2024) has confirmed this notion. The study concluded that genes involved in glycolysis (a vital step in respiration), which includes G6PD among four other genes, play crucial roles in the progression of acute myocardial infarction and could serve as potential immunotherapeutic targets.

Psychotic Conditions

A 2023 study unraveled a link between hemolysis and some psychotic conditions. Among the reviewed literature (eight case reports and a case series of 29 patients), 40% of cases in the series presented with catatonia, and case-control studies have noted a higher prevalence of G6PD deficiency in catatonic schizophrenia.

Interesting Current Research

A case report and review study published in April this year (2024) demonstrated a protective effect of G6PD mutations against the complications of aluminum phosphide (ALP) poisoning. ALP poisoning is common in occupations that extensively use pesticides and rodenticides. This is illustrated by a case report of a 30-year-old male with G6PD deficiency who, despite severe ALP poisoning, showed rapid? clinical improvement with supportive measures and transfusion.

A study published in June this year (2024) aimed to evaluate serum miRNAs (micro RNA) as biomarkers for detecting subclinical hemolysis during the nonacute phase of G6PD deficiency. Participants were patients with severe or moderate G6PD Viangchan (871G > A) deficiency and normal G6PD individuals as controls. Results showed that serum levels of miR-451a, miR-16, and miR-155 were significantly high in patients with severe G6PD deficiency. A “3D analysis” of these miRNAs effectively distinguished G6PD-deficient individuals from healthy ones, suggesting their potential as biomarkers for nonhemolytic phases of G6PD deficiency. Thus, miRNAs could serve as additional biomarkers to detect non-apparent hemolysis in the nonacute phase of this condition.

What are G6PD Deficiency Symptoms

Symptoms of G6PD deficiency primarily arise due to hemolytic anemia, which can be acute or chronic. Acute hemolytic episodes can start due to certain medications (like antimalarials and sulfa drugs), infections, or ingestion of fava beans (favism). During such episodes, individuals may experience sudden fatigue, jaundice (yellowing of the skin and eyes), dark urine, rapid heart rate, and shortness of breath. In severe cases, hemolytic anemia can lead to hemoglobinuria (presence of hemoglobin in the urine) and back pain due to kidney involvement. Although less common, chronic hemolytic anemia can lead to ongoing fatigue, pallor, and splenomegaly (enlarged spleen). Neonatal jaundice is another symptom that can occur in newborns with G6PD deficiency, requiring prompt medical attention.

Managing G6PD Deficiency

Managing G6PD deficiency involves avoiding known triggers that can cause hemolysis. It includes certain medications (like sulfonamides, aspirin, and nonsteroidal anti-inflammatory drugs), foods (especially fava beans), and environmental factors (like mothballs containing naphthalene). Individuals must be aware of these triggers and advised to inform healthcare providers of their condition before receiving new medications. Regular monitoring of blood counts may be necessary for those with chronic hemolytic anemia. During acute hemolytic episodes, treatment may involve stopping the offending trigger, supportive care with hydration, and, in severe cases, blood transfusions. Affected individuals and their families need genetic counseling to understand the inheritance pattern and potential risks for offspring.

References

https://medlineplus.gov/genetics/gene/g6pd/
https://pubmed.ncbi.nlm.nih.gov/15506519/
https://www.nature.com/articles/srep45963
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110402/
https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-024-03989-7
https://www.tandfonline.com/doi/abs/10.1080/15622975.2023.2290563
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11128147/
https://www.nature.com/articles/s41598-024-67108-4

Understanding the Genetics of the Marfan Syndrome

Aira on July 14, 2024

Disclaimer: This article is for informational purposes only and is not intended for diagnostic use. LifeDNA does not provide diagnostic reports on any traits discussed. Genetics is just one piece of the puzzle; please consult a healthcare professional for comprehensive guidance on any health condition.

Marfan Syndrome is a genetic condition that affects the body’s connective tissue. Our connective tissue provides support, strength, and elasticity to other body structures. Marfan’s syndrome can impact your skeletal and cardiovascular systems as well as your eyes. Individuals with Marfan Syndrome often have distinctive physical features such as unusually long arms, legs, and fingers, a tall and slender build, and a curved spine.

The cardiovascular complications are the most serious aspect of Marfan syndrome, particularly a weakened aorta. The aorta is a large blood vessel that carries blood from the heart to the rest of the body. Without proper management, a weakened aorta can lead to life-threatening conditions such as aortic dissection or rupture. Marfan Syndrome affects about 1 in 5,000 people regardless of race, ethnicity, or gender. Early diagnosis and appropriate treatment can help manage the symptoms and prevent complications, significantly improving the quality of life for those with the condition.

Understanding the Genetic Basis of Marfan Syndrome

Marfan Syndrome is caused by mutations in the FBN1 gene, which encodes a protein called fibrillin-1. Fibrillin-1 is a crucial component of connective tissue and contributes to the formation of elastic fibers, which provide elasticity and strength to tissues and organs.

The FBN1 gene mutations lead to the production of abnormal fibrillin-1 or insufficient amounts of the protein, disrupting the structure and function of connective tissues throughout the body. Interestingly the genetic variants of this gene are also related to other traits.

Body Height

According to a 2020 study with Peruvian participants, specific missense variant in the FBN1 gene (E1297G) is linked to shorter stature, with each copy of the minor allele that is present in 4.7% of Peruvian individuals, decreasing height by 2.2 cm, and by 4.4 cm in homozygous individuals. This is the largest known effect for a common height-associated variant. Although common in Peru, this variation is absent in European populations. In a 2020 article, The Broad Institute labeled this as the most powerful genetic variant associated with height, discovered to date. Interestingly individuals affected by Marfan’s syndrome, who typically dont have the E1297G mutation, are characteristically much taller than the rest of their family members.

Eye Health

Variations in the FBN1 gene have also been implicated in eye health. A 2020 GWAS identified FBN1 among other genes like BMP7, COL6A1, and THBS4 that play significant roles in the organization of the structural support that surround cells (a.k.a extracellular matrix). FBN1’s role in the structural integrity of this matrix makes it crucial for both overall growth and the specific development of connective tissues. The study underscores the gene’s importance by linking it with genetic variants that influence eye size and development, particularly corneal curvature and axial length, which are critical for maintaining proper vision.

You may also like: The Genetics of Visual Acuity

Blood Pressure

A 2011 meta-analysis suggested a significant link between the SNP rs140598 in the FBN1 gene and essential hypertension. A more recent association study conducted in the Chinese Han population uncovered several other potential markers connecting FBN1 gene and blood pressure. Researchers examined four tagging SNPs in 2,012 hypertension cases and 2,116 controls. Significant associations were found between hypertension and SNPs rs17361868, rs668842, and rs11635140, with variations observed across different factors such as age, gender, smoking, and drinking status.

How is Marfan Syndrome Inherited?

Marfan Syndrome is inherited in an autosomal dominant pattern. This means that one copy of the mutated FBN1 gene, inherited from one affected parent, is enough to cause the disorder. Each child of an affected parent has a 50% chance of inheriting the condition. The disorder does not skip generations and can be equally transmitted by either parent, regardless of gender.

While most cases of Marfan Syndrome are inherited from a parent who has the condition, approximately 25% of cases result from a spontaneous mutation in the FBN1 gene, with no previous family history. These spontaneous mutations occur randomly and are not inherited from the parents. Genetic counseling is recommended for individuals with Marfan Syndrome who are considering starting a family, as it provides valuable information on the risks of passing the condition to offspring and the implications for family planning.

How Is Marfan Diagnosed?

Diagnosing Marfan Syndrome involves a comprehensive approach that includes a detailed medical history, physical examination, and a series of specialized tests. Physicians look for characteristic features of Marfan Syndrome such as skeletal abnormalities (e.g., long limbs, scoliosis), cardiovascular issues (e.g., enlargement of the aorta), and eye problems (e.g., lens dislocation). Imaging tests like echocardiograms, which visualize the heart and aorta, are crucial in identifying potential cardiovascular complications.

Genetic testing can confirm the diagnosis by identifying mutations in the FBN1 gene. However, a clinical diagnosis is often made based on the presence of a combination of symptoms and family history, even if genetic testing is inconclusive. The Ghent criteria, a diagnostic tool, helps clinicians evaluate these signs and symptoms systematically. Early and accurate diagnosis is essential for initiating appropriate management strategies to prevent severe complications associated with the condition.

Management Methods

Managing Marfan Syndrome involves regular monitoring and a multidisciplinary approach to address the various systems affected by the disorder. Cardiovascular management is crucial, focusing on regular echocardiograms to monitor the size and function of the aorta.

Medications such as beta-blockers or angiotensin receptor blockers are commonly prescribed to reduce stress on the aorta and slow its enlargement. In severe cases, surgical intervention may be necessary to repair or replace the aorta. Orthopedic interventions, including physical therapy and sometimes surgery, help manage skeletal issues like scoliosis.

Regular eye examinations are important to monitor and correct lens dislocation or other vision problems. Lifestyle adjustments, such as avoiding contact sports and heavy lifting, help reduce the risk of aortic complications. Genetic counseling provides support and information for affected individuals and their families. With vigilant management, many people with Marfan Syndrome can lead active, productive lives while minimizing the risk of serious complications.

References

How Genetics Influence Your Hair Texture

Aira on July 6, 2024

Hair texture varies widely among individuals, and much of this diversity can be traced back to human genetics. Read on to explore the different types of hair texture, and the science behind what makes hair straight, wavy, or curly, and uncover the genetic factors that play a pivotal role in determining the locks you see in the mirror every day.

What is Hair Texture?

Hair texture refers to the physical characteristics of hair strands, including their shape, curl pattern, and thickness. Scientifically, hair texture is primarily determined by the shape of the hair follicle and the distribution of a protein called keratin. Hair follicles can be round, oval, or asymmetrical, and this shape influences whether hair grows straight, wavy, or curly.

Straight hair typically comes from round follicles, which produce strands that grow smoothly and evenly. Wavy hair is associated with slightly oval follicles that cause the hair to bend and form gentle waves. Curly and coiled hair results from more irregularly shaped follicles, leading to tighter curls or spirals.

Genetics plays a crucial role in determining hair texture. The texture of a person’s hair is not just a matter of chance but a reflection of their unique genetic makeup. Understanding these genetic influences can help individuals better appreciate the natural qualities of their hair and how it integrates into their overall lifestyle and appearance.

How Do You Test for Hair Texture?

Testing for hair texture involves several methods, each providing insights into the physical characteristics of the hair. These methods are useful for understanding the genetic factors influencing hair texture which can impact daily habits and lifestyle choices.

Visual and Manual Assessment: The most straightforward method involves visually examining the hair’s appearance and manually assessing its texture. This includes checking whether the hair is straight, wavy, curly, or coiled. By gently stretching a hair strand, one can also determine its elasticity—curly hair tends to be more elastic compared to straight hair. This basic method provides a quick, although less precise, evaluation of hair texture.
Microscopic Analysis: Scientists use microscopes to analyze hair follicles for a more detailed examination. This method involves taking samples of hair and examining them under high magnification to observe the shape of the follicle and the cross-sectional profile of the hair shaft. This can reveal whether the hair follicle is round, oval, or asymmetrical, which correlates with different hair textures.
Chemical Testing: This method involves applying specific chemicals to the hair to measure its response, such as the ability to hold a curl or straighten out. The results can provide information about the density and distribution of disulfide bonds in the hair, which affect its texture.

These methods offer various insights into hair texture, helping individuals understand the genetic and structural factors that influence their hair type.

Is Hair Texture Genetic?

Hair texture is largely determined by genetics. Scientific studies have shown that the shape and structure of hair follicles, which dictate whether hair is straight, wavy, curly, or coily, are influenced by specific genetic factors.

Several key genes are involved in influencing hair texture. The EDAR gene affects hair thickness and has variants associated with the straighter, thicker hair commonly found in East Asian populations. Additionally, the TCHH gene encodes for a protein critical to the inner root sheath of hair follicles, playing a role in hair curliness.

Understanding the genetic basis of hair texture can help individuals appreciate the unique characteristics of their hair and make informed decisions about their hair care routines. By recognizing that hair texture is rooted in one’s genetic makeup, people can better tailor their hair care practices to enhance and maintain the health and beauty of their natural hair.

Other Factors Influencing Hair Texture

A combination of genetic, physiological, and environmental factors influences hair texture. Understanding these influences can provide insight into why hair appears and behaves differently from one person to another.

Keratin Proteins

Hair texture is affected by keratin, a protein that makes up the majority of the hair structure. The distribution and composition of keratin proteins determine the hair’s strength and elasticity. Variations in keratin production can lead to differences in hair texture, with higher levels of keratin often resulting in straighter hair and different structural configurations contributing to curliness.

Disulfide Bonds

The presence and density of disulfide bonds — chemical bonds that link keratin proteins — are crucial in determining hair texture. Curly hair typically has a higher density of these bonds, which causes the hair to curl and bend. In contrast, straight hair has fewer disulfide bonds, resulting in a smoother, straighter appearance. The chemical balance of these bonds can be influenced by various factors, including hair care products and treatments.

Hormones

Hormonal changes can also impact hair texture. For instance, hormone fluctuations during puberty, pregnancy, or menopause can alter the hair’s growth pattern and texture. Hormones like androgens can affect the size of hair follicles and the rate of hair growth, potentially changing hair texture temporarily or permanently.

Age

As people age, their hair texture can change due to shifts in hormonal levels and changes in the hair follicle’s size and shape. Typically, hair may become finer and less elastic with age, leading to alterations in its texture.

Health and Nutrition

Overall health and nutritional status play a role in hair texture. Deficiencies in vitamins and minerals, such as iron, biotin, and zinc, can lead to changes in hair texture and health. Adequate nutrition supports the maintenance of healthy hair, whereas a poor diet can result in brittle or uneven texture.

Environmental Factors

External factors, including exposure to heat, humidity, and chemical treatments, can influence hair texture. Frequent use of heat styling tools or chemical treatments can alter the hair’s natural texture, making it more prone to damage and changing its appearance over time.

Hair Care Products

The use of certain hair care products can affect texture. Products with high alcohol content can dry out the hair, leading to a rougher texture. Conversely, moisturizing conditioners and serums can enhance softness and manageability.

By considering these factors, individuals can better understand how their hair texture is shaped and how various aspects of their lifestyle and environment contribute to their hair’s unique characteristics.

What is the Healthiest Hair Texture?

There is no universally “healthiest” hair texture, as hair health is more about its condition than its texture. However, healthy hair is characterized by certain key attributes regardless of whether it is straight, wavy, or curly.

Healthy hair typically exhibits smoothness, strength, and elasticity. This means that the hair cuticle, the outer protective layer, should be intact and lie flat, allowing light to reflect off the surface and give the hair a natural shine. Healthy hair is also resilient, showing minimal breakage or split ends, and has good elasticity, meaning it can stretch without breaking.

Adequate intake of essential nutrients such as vitamins A, C, D, and E, biotin, and minerals such as zinc and iron supports optimal hair health. Regular conditioning and avoiding excessive heat or chemical treatments help maintain the hair’s moisture balance and structural integrity.

While hair texture is largely genetic, well-nourished and properly cared-for hair of any texture can be considered healthy. Maintaining a healthy scalp and using appropriate hair care products tailored to one’s specific hair type and needs is crucial for overall hair health.

Can Hair Texture Change Over Time?

Hair texture can change over time due to various factors, even though the underlying genetic predisposition remains the same.

Hormonal changes are a significant influence. During puberty, pregnancy, or menopause, fluctuations in hormone levels can alter the size and shape of hair follicles, which can lead to changes in hair texture. For instance, some people may notice their hair becoming curlier or straighter during these periods.
Aging also impacts hair texture. As individuals age, the production of certain proteins, including keratin, decreases, and hair follicles may become smaller and less active. This can result in finer, more brittle, and less elastic hair.
Health and lifestyle factors play a role as well. Nutritional deficiencies, stress, and exposure to environmental factors like heat and chemicals can affect hair texture. For example, poor diet or excessive heat styling can lead to drier, more brittle hair.
Medical treatments and conditions can also contribute to changes in hair texture. Certain medications and treatments, such as chemotherapy, can alter hair’s growth pattern and texture temporarily or permanently.

Overall, while genetics set the baseline for hair texture, various factors can influence how it evolves over a person’s lifetime.

Types of Hair Textures

Understanding the different types of hair textures can help individuals better manage and care for their hair. There are generally four main types of hair textures, each with distinct features:

Straight Hair (Type 1): Straight hair has a round follicle shape, which allows the hair to grow smoothly and evenly. It tends to lie flat against the scalp and has a sleek appearance. Straight hair is less prone to tangling and frizz compared to other types. However, it can sometimes appear oily more quickly because the natural oils from the scalp travel down the hair shaft more easily.
Wavy Hair (Type 2): Wavy hair is characterized by a gentle S-shaped pattern. This texture results from a slightly oval or asymmetrical follicle shape that creates natural waves. Wavy hair often has more volume than straight hair and can be prone to frizz, especially in humid conditions. The wave pattern can range from loose, beachy waves to more defined, bouncy waves, depending on the individual’s specific hair structure.
Curly Hair (Type 3): Curly hair forms tight curls or ringlets and is produced by a more oval or asymmetrical follicle shape. The natural curl pattern can vary from soft curls to tight coils. Curly hair is typically more prone to dryness and frizz due to the twists and turns in the hair shaft, which can make it harder for natural oils to travel down the hair. Proper moisturizing and regular conditioning are essential for maintaining the health and definition of curly hair.
Coily Hair (Type 4): Coily hair, also known as afro-textured hair, features very tight curls or zigzag patterns. This type of hair has the most pronounced curl pattern and can range from soft, fluffy coils to more compact, tight curls. Coily hair is often the most delicate and prone to breakage due to its tightly coiled nature. It requires intensive moisture and care to maintain its elasticity and prevent dryness.

Each hair type comes with its own unique set of characteristics and care needs. Understanding these types can help individuals tailor their hair care routines to maintain health and manageability. By recognizing their hair type, individuals can make informed choices about products and routines that best suit their specific needs, contributing to healthier, more manageable hair.

How to Care for Different Hair Textures

Caring for different hair textures requires understanding the unique characteristics and needs of each type. Whether your hair is straight, wavy, curly, or coily, the right care routine can enhance its natural beauty and health. Here’s a guide to caring for each hair texture based on scientific facts and data.

Straight Hair (Type 1)

Straight hair has a round follicle shape, which allows natural oils to travel easily from the scalp down the hair shaft. This can make straight hair more prone to becoming oily quickly.

Shampoo Regularly: Use a gentle, sulfate-free shampoo to remove excess oil and prevent buildup. Washing every 2 to 3 days can help keep the hair clean without stripping it of essential oils.
Lightweight Conditioner: Apply a lightweight conditioner to the ends to prevent tangling without weighing the hair down. Avoid the scalp area to prevent excess oiliness.
Heat Protection: Use a heat protectant spray before using styling tools like flat irons or blow dryers to prevent heat damage.

Wavy Hair (Type 2)

Wavy hair has an S-shaped pattern and tends to be more prone to frizz. It has a slightly oval follicle shape, which creates natural waves.

Moisturizing Shampoo and Conditioner: Choose products that provide hydration to enhance waves and reduce frizz. Look for ingredients like glycerin and natural oils.
Avoid Over-Washing: Washing wavy hair 2 to 3 times a week helps maintain natural oils and moisture balance.
Styling Products: Use lightweight mousses or gels to define waves without stiffening hair. Scrunch the product into damp hair and let it air dry or use a diffuser.

Curly Hair (Type 3)

Curly hair forms tight curls or ringlets due to its oval or asymmetrical follicle shape. It is more prone to dryness because the natural oils struggle to travel down the hair shaft.

Hydrating Shampoo and Conditioner: Use sulfate-free, hydrating products to prevent dryness and maintain curl definition. Ingredients like shea butter and coconut oil are beneficial.
Deep Conditioning: Regular deep conditioning treatments, at least once a week, help to nourish and moisturize curls.
Gentle Detangling: Use a wide-tooth comb or fingers to detangle curly hair wet and conditioned to prevent breakage.

Coily Hair (Type 4)

Coily hair, or afro-textured hair, has very tight curls or zigzag patterns. This hair type has the most pronounced curl pattern and is highly prone to dryness and breakage.

Moisturizing and Nourishing Products: Use rich, creamy shampoos and conditioners to maintain moisture. Look for products with natural oils, butters, and proteins.
Leave-In Conditioners: Apply leave-in conditioners or hair creams to keep the hair hydrated and manageable.
Protective Styling: Incorporate protective styles like braids, twists, or buns to minimize manipulation and reduce breakage. Cover hair with a satin or silk scarf at night to reduce friction and moisture loss.

General Tips for All Hair Types

Avoid Heat Damage: Minimize the use of heat styling tools and always use a heat protectant.
Regular Trims: Trim hair regularly to prevent split ends and maintain healthy growth.
Balanced Diet: Maintain a diet rich in vitamins and minerals, such as biotin, vitamin E, and omega-3 fatty acids, to support healthy hair from the inside out.

By tailoring hair care routines to suit their specific texture, individuals can achieve healthier, more manageable hair. Understanding the unique needs of each hair type, influenced by genetic factors, allows for better care and maintenance, enhancing the natural beauty of their hair.

Why Choose LifeDNA

With over 200 DNA-based trait reports available across our Wellness, Vitamins and Supplements, Fitness, Nutrition, Sleep, Personality and Cognition, and Skincare Reports, LifeDNA provides a holistic approach to your wellness and beauty journey. Explore also our premium Aging Report, Methylation Genes Report, and Detoxification Genes Report for even deeper insights.

Start your journey to the even more beautiful you today. Avail yourself of LifeDNA’s plans and gain access to invaluable genetic insights that will guide your skincare choices and overall wellness. Discover the power of personalized care and make informed decisions for a more vibrant, confident you. Dive into LifeDNA’s reports and transform your skincare routine based on the science of your unique genetics.