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Genetics of Salla Disease: Mutations, Inheritance and Gene Therapy

Catherine on March 15, 2025

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.

Salla disease is a rare autosomal recessive lysosomal storage disorder characterized by defective sialic acid metabolism. It falls under the broader category of sialic acid storage disorders (SASD) and is caused by mutations in the SLC17A5 gene, which encodes the sialin transporter protein. This transporter is responsible for the export of free sialic acid (N-acetylneuraminic acid) from lysosomes. Mutations in SLC17A5 lead to an abnormal accumulation of sialic acid within lysosomes, affecting multiple organ systems, particularly the central nervous system.

Sialic acids are important for cell signaling, immune function, and neural development, and their proper export allows cells to recycle them for glycoprotein and glycolipid synthesis. Defective transport impairs cellular function, particularly in the nervous system, leading to severe neurodevelopmental and metabolic disorders.

Genetic Basis of Salla Disease

SLC17A5 Gene and Its Role

The SLC17A5 (a.k.a AST) gene, located on chromosome 6q14-q15, encodes sialin, a protein essential for transporting sialic acid out of lysosomes.

In Salla disease, mutations in SLC17A5 impair this transport, leading to accumulation of sialic acid inside cells and subsequent cellular dysfunction. The disease follows an autosomal recessive inheritance pattern, meaning an affected individual must inherit two defective copies of the SLC17A5 gene—one from each parent.

Common Mutations in SLC17A5

Several mutations in SLC17A5 have been linked to Salla disease, with the most common being:

c.115C>T (p.R39C): A prevalent mutation in Finnish populations, often associated with classical Salla disease.
c.850C>T (p.Q284X): A nonsense mutation leading to a truncated, non-functional sialin protein.
c.1408G>A (p.G470R): A missense mutation affecting protein stability.

Clinical Manifestations

The severity of Salla disease varies based on the residual function of the mutated sialin transporter. There are two primary forms:

Classical Salla Disease (CSD) – Milder form, primarily observed in Finnish populations, presenting with early-onset hypotonia, delayed motor development, progressive neurological deterioration, and intellectual disability.
Infantile Sialic Acid Storage Disorder (ISSD) – A more severe neonatal-onset form, often leading to fatal multi-organ involvement and profound neurodevelopmental impairment within infancy.

Diagnosis and Genetic Testing

Diagnosis of Salla disease is confirmed through:

Urinary Free Sialic Acid Testing – Elevated free sialic acid in urine is a hallmark of the disease.
Molecular Genetic Testing – Identification of SLC17A5 mutations through next-generation sequencing (NGS) or Sanger sequencing.
Brain MRI – May reveal characteristic white matter abnormalities, indicative of leukoencephalopathy.

Genetic Counseling and Inheritance

As an autosomal recessive disorder, parents of an affected child are typically carriers (heterozygous), each having one defective copy of SLC17A5. Carrier parents have a 25% chance of passing the disease to their offspring with each pregnancy, a 50% chance that the child will be an asymptomatic carrier, and a 25% chance of being unaffected.

Also learn about other autosomal recessive disorders:

Cystic Fibrosis

Genetic counseling is highly recommended for families with a history of Salla disease, especially in high-risk populations such as those of Finnish descent.

Potential Therapeutic Approaches

A 2023 study compared two methods, the CRISPR-Cas9-mediated homology-directed repair (HDR) and adenine base editing (ABE), to correct the SLC17A5 c.115C>T (p.Arg39Cys) variant in human fibroblasts. While HDR showed minimal correction with a high rate of undesired mutations, ABE achieved significant correction without detectable errors, effectively reducing free sialic acid levels and offering a glimpse of hope that one day this methodology could be applied to help affected individuals as well.

Learn more about the groundbreaking usage of Gene Editing to cure genetic conditions

Currently, there is no cure for Salla disease, and treatment focuses on symptom management and supportive care, including:

Physical therapy for motor function support.
Speech and occupational therapy for developmental delays.
Seizure management with antiepileptic medications.
Future gene therapy prospects – Research into gene therapy and targeted molecular treatments may provide potential interventions in the future.

Conclusion

Salla disease is a rare lysosomal storage disorder caused by mutations in the SLC17A5 gene, leading to defective sialic acid transport and progressive neurological impairment. While currently incurable, early diagnosis, genetic counseling, and supportive therapies can improve quality of life for affected individuals. Advances in molecular genetics continue to offer hope for future treatments, highlighting the importance of ongoing research in the field of lysosomal storage diseases.

References

A Genetic Deep-Dive into MCAD Deficiency

Catherine on March 14, 2025

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD deficiency) is a rare genetic disorder that affects the body’s ability to break down medium-chain fatty acids into energy. This condition primarily impacts energy production, especially during prolonged fasting or periods of increased energy demand, such as illness or physical exertion.

Medium Chain Fatty Acids

Medium-chain fatty acids (MCFAs) are a type of saturated fatty acid that contain 6 to 12 carbon atoms. They are found in various food sources and play a critical role in energy production and metabolism. Unlike long-chain fatty acids (LCFAs), MCFAs are more easily digested, absorbed, and utilized by the body for quick energy.

MCFAs are unique compared to short-chain (less than 6 carbons) and long-chain (more than 12 carbons) fatty acids due to their rapid absorption and metabolism. Some key characteristics include:

Water solubility: MCFAs are more soluble in water than long-chain fatty acids, making them easier to digest.
Direct absorption: Unlike LCFAs, which require bile salts for digestion, MCFAs are absorbed directly into the portal vein and transported to the liver, bypassing the lymphatic system.
Fast energy production: The liver quickly converts MCFAs into ketones, which can be used as an alternative fuel source, especially for the brain and muscles.

MCFAs are naturally present in various food sources, including:

Coconut oil (rich in C8 and C10)
Palm kernel oil
Dairy products (butter, milk, cheese)
Human breast milk
Medium-chain triglyceride (MCT) oil (a purified form of MCFAs, commonly used for therapeutic and dietary purposes)

The most common MCFAs include:

Caproic acid (C6)
Caprylic acid (C8)
Capric acid (C10)
Lauric acid (C12)

How are MCFAs metabolized?

MCFAs are metabolized through a process called mitochondrial beta-oxidation. In this process fats that enter the body from the diet are converted into usable energy.

MCFA metabolism is considered to be more efficient compared to that of LCFAs. This is because MCFAs bypass the lymphatic system and enter the liver quickly through the portal vein. In the liver, they enter the mitochondria without requiring carnitine transport. Inside the mitochondria, MCFAs undergo beta-oxidation. During beta-oxidation MCFAs are sequentially cleaved into acetyl-CoA molecules. Acetyl CoA enters the Krebs cycle and generates ATP, the body’s main energy currency. Additionally, excess acetyl-CoA from MCFAs can be converted into ketones, an alternative fuel source for the brain and muscles, especially during fasting or low-carbohydrate intake.

Understand the Genetics of Saturated Fat Metabolism in more detail

Genetics of MCAD Deficiency

The Role of the ACADM Gene

The ACADM gene provides instructions for producing the enzyme medium-chain acyl-CoA dehydrogenase (MCAD). This enzyme plays a crucial role in beta-oxidizing MCFAs in the mitochondria.

When mutations occur in the ACADM gene, the production or function of MCAD enzyme is impaired, preventing the efficient breakdown of medium-chain fatty acids. As a result, individuals with MCAD deficiency experience an accumulation of fatty acid metabolites in the body, leading to metabolic crisis, hypoglycemia (low blood sugar), and potential organ damage if left untreated.

p.K304E or c.985A>G mutation

The p.K304E mutation accounts for ~80% of MCADD cases in Northern European populations who are homozygous for it. MCAD enzyme needs a molecule called FAD (flavin adenine dinucleotide) to function properly. Normally, MCAD enzymes group together into four-unit structures (tetramers) to work efficiently. A 2023 study examined 12 different MCAD mutations, including p.K304E and 11 otherrare ones. It found that half of these variants had trouble holding onto FAD, with levels dropping below 65% of normal.

Inheritance and Genetic Mutations

MCAD deficiency is inherited in an autosomal recessive pattern. This means that a person must inherit two mutated copies of the ACADM gene, one from each parent, to develop the disorder. Individuals with only one mutated copy are carriers and do not typically show symptoms, but they can pass the mutation to their offspring.

More than 100 mutations in the ACADM gene have been identified, with the most common mutation being the c.985A>G (K304E). Although MCAD deficiency is found only in 1 in 15,000 to 1 in 20,000 births in the whole USA, this specific genetic variant accounts for up to 80% of the cases in individuals of Northern European descent. Other mutations, including frameshift and missense mutations, contribute to the variability in disease severity observed among affected individuals.

Read about another autosomal recessive condition: Cystic Fibrosis

Genetic Screening and Diagnosis

Genetic testing for MCAD deficiency is commonly performed through newborn screening programs in many countries. Screening involves detecting elevated levels of medium-chain fatty acids, particularly octanoylcarnitine (C8), in dried blood spots. Confirmatory diagnosis is done via:

Molecular genetic testing to identify mutations in the ACADM gene
Enzyme activity assays in cultured fibroblasts or leukocytes
Plasma acylcarnitine profile analysis

Early diagnosis is crucial in preventing life-threatening metabolic crises, which can occur in infancy or early childhood. Benefits of early diagnosis of MCADD was reinforced by this large 2022 study in ~200,000 new borns in China between 2016 and 2022. Genetic analysis identified four known and four novel ACADM variants. Five children remained asymptomatic with proper dietary management, while one died due to a vaccination-triggered metabolic crisis leading to hypoglycemia and elevated acylcarnitines. The study highlights that genetic screening is essential for early detection, prevention, and improved prognosis of the disorder.

Implications of Genetic Findings

Identifying specific ACADM mutations can help predict disease severity and guide personalized medical management. Some individuals with milder mutations may experience fewer metabolic episodes, while others with severe mutations may have a higher risk of metabolic decompensation.

A case study published in 2010 follows the clinical history of a female patient. Her metabolic tests showed low urinary hexanoylglycine and suberylglycine, failure to produce ketones after 12 hours of fasting, and low blood carnitine level. This suggested a mitochondrial β-oxidation defect. Enzyme activity analysis confirmed mild MCADD, with octanoyl-CoA dehydrogenase activity reduced to 25% of normal. Other mitochondrial enzymes remained functional. Genetic testing revealed compound heterozygosity with the common c.985A>G (p.K304E) mutation and a novel c.145C>G (p.Q24E) mutation in the ACADM gene, marking the first report of this variant. This case shows that mild MCADD phenotypes, despite retaining some enzyme activity and showing low glycine conjugate excretion, can still lead to metabolic crises, reinforcing the need for early diagnosis and management.

Carrier screening for at-risk populations, especially among those of Northern European descent, can help prospective parents make informed reproductive decisions. Genetic counseling is recommended for families with a history of MCAD deficiency.

Conclusion

MCAD deficiency is a genetic disorder caused by mutations in the ACADM gene, leading to impaired fatty acid metabolism. Understanding its genetic basis has improved early detection, newborn screening, and personalized treatment strategies. With proper management, individuals with MCAD deficiency can lead healthy lives by following dietary recommendations and avoiding prolonged fasting. Advances in genetic research continue to enhance our knowledge of this condition, offering hope for improved interventions in the future.

References

Genetic response to alpha-keto glutarate

Catherine on March 14, 2025

Overview

Your body needs energy to do everything, from moving your muscles to helping your brain think. That energy comes from the food you eat. But before your body can use food for energy, it has to break it down. One important step in this process is called the Krebs cycle (also known as the Citric Acid Cycle).

The Krebs cycle is a series of steps that happen inside your cells. It takes compounds derived from food, such as sugars (glucose), fatty acids and amino acids and turns them into energy. This happens in small organelles inside the cells called the mitochondria, which are often called the powerhouses of the cell. The main job of the Krebs cycle is to make energy in the form of ATP that your body can use. ATP or adenosine triphosphate is the fuel your cells use to work.

This is where Alpha-keto glutarate or AKG comes into play. AKG is an intermediate compound that mediates the conversion of food into adenosine triphosphate (ATP). AKG is gaining the interest of researchers for its wide-ranging benefits from supporting cellular energy to promoting longevity and healthy aging. Beyond energy metabolism, Alpha-keto glutarate or AKG is also involved in regulating gene expression, muscle health, immune function, and even lifespan. Interestingly, the way individuals respond to AKG supplementation may vary based on their genetics. Understanding this will help us know how to keep our cells healthy, how to boost energy naturally, and even how to slow down aging.

What Is Alpha-Ketoglutarate?

Alpha-keto glutarate is a special compound that helps our cells make energy. Our bodies make AKG naturally, but we can also take it as a supplement to help our bodies work better. AKG is important for making other things our bodies need, like building blocks for proteins. However, as we get older, our bodies may not use AKG as well, so taking it as a supplement might not work the same for everyone.

AKG also helps the body make two important substances called glutamine and glutamate. These are used to build proteins, help brain cells talk to each other, and keep your immune system strong. Because AKG is involved in so many body processes, scientists are studying it to see if it can help our cells make energy better, help us heal faster, lower swelling in the body, and maybe even help us live longer, as is suggested by studies in animals.

Alpha-Ketoglutarate Functions & Benefits

Helps Build Proteins and Muscles: AKG helps our bodies make two important amino acids—glutamine and glutamate. These are like tiny tools our bodies use to build proteins and keep muscles healthy. They also stop our bodies from breaking down muscle, which could happen when we’re sick or stressed. Glutamine is very important—it helps our gut, immune system, and muscles. Even though muscles store a lot of glutamine, we can run low during tough times. That’s why taking AKG might help us keep enough glutamine when we need it most.
Helps Us Absorb Iron: AKG can also help our bodies absorb more iron from food, especially when we don’t have enough iron or when we’re growing quickly. Iron is important for healthy blood and energy.
Helps Make Collagen: Collagen is a protein that holds our body together—it’s in our skin, bones, and joints. AKG helps an enzyme (P4H) in our body that makes collagen work properly by helping to produce hydroxyproline, a crucial amino acid needed for strong collagen structure. If this doesn’t happen, our bodies can’t make good collagen, and that can affect how long our skin and bones stay strong and stretchy.
AKG Helps Make and Reuse Proline: Proline is another important part of collagen. Our bodies can produce proline using AKG as a precursor. Most of the time, our bodies actually reuse proline from old collagen that’s been broken down. AKG helps with that too, by supporting an enzyme that recycles proline. This means AKG helps both make new proline and reuse old proline, which is great for keeping our skin and bones healthy.
AKG Affects Hormones and Bone Growth: AKG can help our bodies make more of certain hormones like insulin, growth hormone, and IGF-1. These hormones help us grow, heal, and stay strong. In animal studies, giving AKG increased the levels of proline in the blood. AKG works together with vitamin C and iron to help our bodies make collagen—a protein that builds strong bones and skin. So, AKG plays a part in keeping our bones strong and healthy.
Mitochondrial support: As a fuel for the Krebs cycle, AKG boosts cellular energy production, which is critical for tissues with high energy demands, such as muscles and the brain.
Immune regulation: AKG may help modulate the immune response by supporting T-cell function and reducing inflammatory cytokines.
Detoxification: AKGhelps the liver and kidneys clear excess nitrogen and toxins from the body, improving metabolic balance.

Genetic Response to Alpha-Keto glutarate

A recent study investigated how alpha-keto glutarate (AKG) supplementation affects growth, nutrient use, antioxidant capacity, and gene expression in Nile tilapia when combined with different protein levels in the diet. Researchers tested five diet groups: four with 1% AKG at varying protein levels (20%, 25%, 30%, and 35%) and one control group with 35% protein and no AKG.

After 60 days, the group fed a diet with 30% protein and 1% AKG showed significantly better growth, nutrient utilization, and antioxidant enzyme activity (SOD and CAT) compared to regular diet. Notably, the expression of the growth-related gene IGF-1 was significantly upregulated in this group, indicating a genetic response to AKG that supports growth. Inflammatory markers like TNF-α were lower in the lower-protein AKG groups, suggesting improved immune status.

Interestingly, the 25% protein + AKG group ( achieved similar growth results as the 35% protein control group without AKG , highlighting that AKG may reduce the need for higher protein input in aquafeeds without compromising growth.

The findings suggest that AKG not only supports better physical growth but also activates genes related to growth and inflammation control, offering a promising dietary strategy for more sustainable fish farming.

People with certain genetic profiles may experience greater benefits from AKG supplementation, particularly if their natural AKG metabolism or mitochondrial function is suboptimal. Genetics plays a major role in how well AKG works in the body. With the help of personalized testing and informed supplementation, AKG may offer a science-backed way to enhance vitality and support healthy aging at the cellular level.

Sources of Alpha-Ketoglutarate

While AKG is naturally produced in the body, dietary intake can also support its levels. Foods high in protein, especially those rich in glutamate or glutamine (like meats, eggs, and dairy), may indirectly boost AKG production. However, these dietary sources typically don’t provide a significant amount of free AKG.

Supplemental AKG is often available in the form of calcium alpha-ketoglutarate (Ca-AKG), which is more stable and better absorbed. This form has been used in many aging and mitochondrial health studies, showing promising results.

Who Might Benefit from Alpha-Ketoglutarate?

Because AKG plays a foundational role in energy metabolism and cellular repair, the people who may benefit the most include:

Older adults: looking to preserve muscle, bone, and cognitive function
Athletes or active individuals: recovering from intense training
People with mitochondrial or metabolic dysfunction: including fatigue-related conditions
Those under chronic stress: who may have elevated inflammation and reduced recovery capacity
Biohackers and longevity enthusiasts: exploring ways to slow biological aging

Genetic testing may help identify whether someone has variants that could impair mitochondrial function or AKG metabolism, making supplementation especially useful.

Safety and Precautions of Using AKG

While alpha-ketoglutarate (AKG) is used by some people for conditions like long-term kidney disease and other health issues, it’s important to be careful when using it.

Safety: Taking AKG by mouth appears to be safe for most people when used for up to three years. Using AKG on the skin is also likely safe for up to eight weeks. However, it’s best not to use it for longer periods without checking with a healthcare professional.

Pregnancy and Breastfeeding: There isn’t enough reliable information about how safe AKG is for pregnant or breastfeeding women. To be safe, it’s recommended to avoid using AKG during pregnancy and while breastfeeding.

Other Uses: Although some people use AKG for things like aging skin, improving athletic performance, or helping with liver disease, there isn’t enough strong scientific evidence yet to prove that it works for these purposes.

Before starting AKG, especially if you have health conditions or are taking other medicines, talk to your doctor to make sure it’s safe for you. As more people turn to personalized health strategies, the importance of understanding genetic and biological responses to supplements like AKG is becoming clearer.

Emerging research suggests that tailoring AKG supplementation based on genetic markers could optimize benefits—especially in areas like muscle maintenance, cellular aging, and brain health.

How LifeDNA’s Nutrition Report

LifeDNA’s Nutrition Report doesn’t just help you understand your dietary tendencies—it can also offer insights into how your body might process and respond to key compounds like Alpha-Ketoglutarate (AKG). Because AKG is connected to several metabolic and cellular processes, your genetic profile, especially those genes influencing protein metabolism, mitochondrial efficiency, and nutrient absorption may affect how your body utilizes AKG.

References

An In-Depth Genetic Review of Preeclampsia

Catherine on March 14, 2025

Preeclampsia (PE) is a serious pregnancy complication characterized by the expecting mother’s high blood pressure and signs of organ damage, often affecting the liver and kidneys. It typically arises after 20 weeks of pregnancy and can lead to severe complications for both the mother and baby if left untreated.

Despite extensive research, the exact cause of preeclampsia remains unclear. However, increasing evidence suggests that genetic factors play a crucial role in its development.

This article explores the genetic underpinnings of preeclampsia, highlighting key genetic markers, inheritance patterns, and potential implications for future research and treatment.

Genetic Risk Factors for Preeclampsia

Preeclampsia is considered a multifactorial disorder, influenced by both genetic and environmental factors. Studies have identified several genes and genetic variations associated with an increased risk of preeclampsia.

Maternal and Fetal Genetic Contributions

Research suggests that both maternal and fetal genes contribute to preeclampsia risk. The maternal genome influences how the mother’s body adapts to pregnancy, while fetal genes inherited from both parents affect placental function, which is crucial in preeclampsia development.

In a 2020 study researchers identified placental genetic and epigenetic markers, notably the upregulation of the microRNA MIR138 in preeclamptic placentas of female infants.

Another 2020 study highlighted the role of the complement system in preeclampsia risk. The complement system is an important aspect of immune response. Researchers hypothesized that specific combinations of maternal and fetal complement gene SNPs can contribute to preeclampsia risk. Sequencing factor H (CFH), C3, and CD46 genes revealed nine common SNPs, with two fetal CD46 variants showing significantly higher frequencies in preeclampsia cases.

Other Candidate Genes Associated with Preeclampsia

Several genes have been linked to preeclampsia (PE), including:

FLT1

FLT1 (Fms-related tyrosine kinase 1) gene encodes a protein involved in making blood vessels. Increased levels of soluble FLT1 (sFLT1) are found in preeclamptic women. This leads to poor blood flow to the placenta.

In the same year, another study performed on the Japanese population also found elevated levels of FLT1 mRNA in women with preeclampsia. However, the authors note that a larger study is needed to definitively ascertain this link.

A 2023 RNA sequencing study flagged FLT1 as one of the genes whose expression was upregulated in African-American women with severe preeclampsia.

A 2020 study in Estonian cohorts observed the rs4769613-C variant to be associated with preeclampsia. This SNP is located in an enhancer near FLT1.. The study also notes that identifying this variant in cell-free fetal DNA (cffDNA) from maternal blood could aid in early risk assessment for preeclampsia.

ENG (Endoglin)

ENG is another key gene in blood vessel function, and elevated levels of soluble endoglin contribute to endothelial dysfunction, a hallmark of preeclampsia. Elevated soluble endoglin (sEng) levels are found in the serum, plasma, and urine of preeclampsia patients. The sEng are generated through membrane-bound endoglin are broken away by metalloproteases (a kind of enzyme) and potentially other proteases. A study published in February of this year (2025) showed that thrombin could possibly be responsible for this. Thrombin is the key protein that helps your body in the clotting process.

A 2021 systematic review and meta-analysis of 20 studies involving 1146 preeclamptic and 1675 normotensive pregnant women found that soluble endoglin levels were significantly higher in preeclamptic women during the second and third trimesters. Elevated soluble endoglin levels were observed in both early-onset and late-onset preeclampsia.

A retrospective study, also published in 2021, was performed on 124 women to study the angiogenic and metabolic placental factors in type 1 diabetes, type 2 diabetes, gestational diabetes, preeclampsia, and control groups. The results showed that the genetic expression of the ENG gene was the highest in patients with preeclampsia.

MTHFR

The MTHFR gene, short for Methylenetetrahydrofolate Reductase, is crucial in the body’s metabolic processes. This gene is responsible for producing the MTHFR enzyme, which plays a vital role in processing amino acids, the building blocks of all proteins.

Read our in-depth analysis of the MTHFR gene here.

A 2020 case-control study examined the role of methylenetetrahydrofolate reductase (MTHFR), homocysteine, and MDA levels in 30 preeclampsia patients and 30 healthy pregnant women. Results showed significantly higher homocysteine and MDA levels in preeclamptic women, along with reduced MTHFR activity. This suggests impaired homocysteine metabolism. These findings highlight the role of homocysteine regulation and MTHFR activity in blood pressure control, making them potential targets for preeclampsia prevention and treatment.

A 2023 study investigated the role of polymorphisms in eNOS (-786 T > C, 894 G > T) and MTHFR (1298 A > C, 677 C > T) in preeclampsia among 160 patients and 160 healthy pregnant women in Quanzhou (Han population). Variants eNOS 894 G > T and MTHFR 1298 A > C showed no significant differences. However, the eNOS -786 C allele (OR: 2.07, p = 0.03) and MTHFR 677 T allele (OR: 1.83, p = 0.04) were more frequent in preeclampsia (PE) patients.

Additionally, women with the eNOS -786 CC genotype had lower nitric oxide (NO) levels, while those with the MTHFR 677 TT genotype had higher homocysteine (Hcy) levels, both of which contribute to vascular dysfunction in PE. These findings suggest that eNOS -786 CC and MTHFR 677 TT genotypes may serve as genetic predictors of PE risk.

Interestingly, however, a systematic review, also published in 2023, done on relevant case-control studies between 2000 and 2019, irrespective of ethnic background, showed no statistical significance between the MTHFR 677 T allele and preeclampsia risk.

Another case-controlled study comprising of women from South India showed that preeclampsia was common in women carrying the T variant of MTHFR rs1801133 SNP.

A note on previously implicated genes

The AGT (angiotensinogen) gene, particularly the M235T variant, has been implicated in preeclampsia in some studies. But the association remains inconsistent across different populations.

Findings from a 2021 study suggest that AGT M235T polymorphism does not play a significant role in preeclampsia pathophysiology in the Thai population, despite previous associations with increased blood pressure in pregnancy. Similar findings were recorded in a 2022 study on the Chinese population.

Inheritance Patterns

Preeclampsia exhibits a strong familial component, with women having a higher risk of developing the condition if their mother or sister had preeclampsia.

Maternal inheritance

Daughters of women with a history of preeclampsia are at an increased risk, indicating a hereditary predisposition.

Paternal influence

Some studies suggest that a father’s genetic contribution may also play a role. Men born to preeclamptic mothers have a higher likelihood of fathering pregnancies affected by preeclampsia.

Polygenic inheritance

As seen in the previous sections, rather than a single gene, multiple genetic variants collectively contribute to susceptibility, making preeclampsia a polygenic disorder.

Epigenetics and Preeclampsia

Epigenetic modifications, such as DNA methylation and histone modifications, regulate gene expression without altering the underlying genetic code. Environmental factors, including maternal diet, stress, and exposure to pollutants, can influence these epigenetic changes and potentially contribute to preeclampsia risk.

Abnormal DNA methylation patterns in placental tissues of preeclamptic women can affect genes involved in angiogenesis and immune function. A 2020 epigenetic study showed higher ENG methylation in preeclampsia cases. But more robust studies are needed to establish this link definitively.

MicroRNAs (small RNA molecules that regulate gene expression) show altered expression in preeclampsia, impacting placental function. A 2021 study investigated CD4+ T cells in preeclamptic and healthy pregnant women. Results showed that miRNA-326 was upregulated in CD4+ cells of women with preeclampsia. Similarly, findings from a 2020 study suggests that plasma exosomal miRNA profiling could enhance understanding of preeclampsia pathophysiology and serve as a potential diagnostic tool.

Implications for Diagnosis and Treatment

Understanding the genetic basis of preeclampsia has important clinical implications:

Genetic Screening: Identifying high-risk women through genetic testing could allow for early monitoring and preventive interventions.
Targeted Therapies: Research into genetic pathways involved in preeclampsia may lead to the development of targeted treatments, such as drugs that modulate sFLT1 levels.
Personalized Medicine: Genetic insights can pave the way for individualized treatment approaches, improving maternal and fetal outcomes.

Summary

Preeclampsia remains a major global health challenge, but advances in genetic research are shedding light on its complex origins. While no single gene is responsible for the condition, a combination of maternal, paternal, and fetal genetic factors contribute to its development. Further research, particularly in genomics and epigenetics, holds promise for improving early detection, prevention, and treatment strategies for preeclampsia, ultimately enhancing maternal and neonatal health.

References

What You Should Know About Bulimia and Its Health Effects

Catherine on March 13, 2025

Bulimia nervosa, often just called bulimia, is a serious eating disorder that can affect both mental and physical health. While it can impact anyone, it is most commonly seen in females and usually begins in adolescence or early adulthood. Between 1% and 2% of people may experience bulimia in any given year. The condition can be life-threatening if left untreated, so it is important to understand what it is, what causes it, and how it can be managed.

What Is Bulimia Nervosa?

Bulimia nervosa is a mental health condition that involves a cycle of binge eating followed by unhealthy actions to avoid weight gain. People with bulimia often eat large amounts of food in a short time, feeling unable to stop themselves. This bingeing is usually followed by purging, which may include vomiting, fasting, or excessive exercise. These behaviors are often done in secret, leading to feelings of shame, guilt, and emotional distress.

The condition was first described in a scientific paper in 1979 by psychiatrist Gerald Russell, who considered it to be a more dangerous form of anorexia. Over time, bulimia has been recognized as its own distinct disorder with specific signs and treatment approaches

You may also want to read: Genetic Influences of Unhealthy Food Intake

Who Does Bulimia Affect?

Bulimia may affect individuals of any age, gender, or background, but it is most commonly seen in adolescent girls and young women. The disorder typically begins during the teenage years or early adulthood, though it may also develop later in life. While the majority of cases are reported among females, bulimia may also affect males.

What Are the Symptoms of Bulimia?

Recognizing the symptoms of bulimia can be challenging, as individuals with this disorder often go to great lengths to hide their behaviors. However, there are both emotional and physical signs that may indicate the presence of bulimia.

Behavioral and Emotional Symptoms

Fear of gaining weight and frequent dieting: Individuals with bulimia are often afraid of a change of weight and engage in constant dieting or extreme weight control measures.
Eating unusually large amounts of food in one sitting: Binge eating is a key symptom of bulimia, where individuals consume an excessive amount of food in a short period.
Feeling a loss of control while eating: During a binge, individuals may feel they cannot stop eating even if they want to.
Being unhappy with body weight or shape: Bulimia often comes with a distorted body image, where the individual feels dissatisfied with their appearance.
Extreme mood swings or low self-esteem: Bulimia is frequently linked to intense mood swings, anxiety, and low self-worth, which contribute to the behaviors associated with the disorder.

Physical Symptoms

Dental problems: Frequent vomiting exposes the teeth to stomach acid, leading to enamel erosion, cavities, and gum disease.
Digestive issues: Bulimia can cause constipation, acid reflux, and other digestive problems due to laxative abuse and frequent purging.
Scars or calluses on the knuckles: People who induce vomiting may develop noticeable scars or calluses on the back of their hands from repeatedly forcing their fingers down their throat.
Dehydration and muscle weakness: Purging and laxative use can lead to dehydration, resulting in fatigue, muscle weakness, and even heart problems in severe cases.

What Are the Health Effects of Bulimia?

Bulimia can cause serious health problems that affect both the body and the mind. These complications are the result of the repeated cycle of bingeing and purging, which puts stress on the body’s systems. If not treated, these issues can become life-threatening.

Mental health issues: People with bulimia are at higher risk for depression, anxiety, and personality disorders.
Substance misuse and self-harming behaviors: Some may turn to drugs or alcohol to cope with emotional pain, or engage in self-harming behaviors like cutting or burning themselves.
Suicidal thoughts or actions: In extreme cases, the overwhelming stress and emotional distress can lead to suicidal thoughts or attempts.

What Are the Causes of Bulimia?

The exact cause of bulimia isn’t fully known, but experts believe it is linked to a mix of genetic, emotional, and environmental factors. People who have close family members with eating disorders may be more likely to develop bulimia.

Emotional health plays a major role. Conditions like depression, anxiety, and low self-esteem are commonly seen in people with bulimia. Traumatic events or childhood mistreatment can also increase the risk. In many cases, people turn to food as a way to cope with stress or emotional pain. The media and popular culture often promote unrealistic body types, especially for women. Constant exposure to these messages can lead to body dissatisfaction and a desire to control weight in unhealthy ways. Peer pressure, bullying, or teasing about body image can also trigger the disorder, especially during teenage years. Dieting itself is a known risk factor. People who frequently restrict calories may end up binge eating due to hunger, then feel guilty and try to compensate by purging. This cycle may quickly spiral into a long-term eating disorder.

Genetics on Bulimia

Research into the genetics of eating disorders, including bulimia has shown that these conditions may have a strong genetic component, rather than being solely influenced by social or cultural factors. Studies suggest that bulimia and other eating disorders, like anorexia nervosa, are influenced by a combination of genetic and environmental factors

Studies on families and twins have shown that eating disorders like bulimia often run in families. This means that if someone has a relative with an eating disorder, they are more likely to develop one too. Twin studies have found that heritability may explain between 54% to 83% of the risk for developing bulimia. This suggests that genetics play a big role in who gets the disorder.

Research studies also show that some people may be born with a higher chance of developing behaviors linked to bulimia, like binge eating and purging. Genetics may also influence personality traits often seen in people with bulimia, such as perfectionism, anxiety, and being highly sensitive to stress. These traits are also common in other mental health issues, like depression and anxiety, which may share some of the same genetic roots with bulimia.

Studies support the idea that bulimia is not only caused by outside pressures like media or dieting. Instead, it has strong genetic factors that shape both a person’s mental health and behavior. More research is still needed to find the exact genes involved, which could help lead to better ways to treat and understand the disorder.

Is Bulimia Hereditary?

Yes, bulimia is strongly influenced by genetics. Studies show that it often runs in families. If someone has a close relative with bulimia, their risk of developing it increases by 7 to 12 times. Twin studies also confirm this—identical twins are more likely to both have bulimia compared to fraternal twins. Overall, researchers estimate that 54% to 83% of the risk for bulimia comes from inherited genetic factors.

How Is Bulimia Diagnosed?

To diagnose bulimia, a professional healthcare provider will ask about eating habits, emotions, and physical symptoms. They will also perform a physical exam. There are no lab tests that specifically confirm bulimia, but tests like blood work, urinalysis, and heart monitoring may be done to check for damage caused by the disorder.

Diagnosis typically follows specific criteria. These include having repeated episodes of binge eating, feeling out of control during those episodes, using purging behaviors, and experiencing these behaviors at least once a week for three months. Another important sign is allowing body shape or weight to strongly affect self-image.

Being honest during the evaluation process is important. Although it may feel uncomfortable, sharing the full picture helps doctors recommend the right treatment.

How Is Bulimia Treated?

Effective treatment for bulimia usually involves a combination of therapies and support. The goal is to stop the binge-purge cycle and address the thoughts and emotions that lead to it.

Psychotherapy, especially cognitive-behavioral therapy (CBT), is one of the most common treatments. CBT helps people recognize harmful thinking patterns and replace them with healthier behaviors. It also teaches skills to cope with difficult situations without turning to food.

Nutritional counseling is also key. A dietitian or counselor can help build balanced eating habits and develop a healthy relationship with food. This helps prevent bingeing by reducing food restriction. In some cases, medications such as antidepressants may be prescribed. These can help reduce binge eating and treat underlying issues like anxiety or depression. Support groups can also provide encouragement and understanding. Sharing experiences with others who are going through similar challenges can be a powerful part of recovery.

References

Is Math ability Determined by Genetics?

Catherine on March 12, 2025

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.

Math ability, short for mathematical ability, plays an important role in how we learn and think in general. But while some people seem to be naturally good at math, others struggle despite their efforts. This leads to an important question, is math ability something we are born with, or is it shaped more by our environment and education?

Understanding math ability goes beyond its important role in academic performance, as it offers insights into brain health, cognitive development, and even mental well-being. Math skills are linked to brain regions involved in memory, reasoning, and problem-solving, so studying these skills may help us understand how the brain functions and changes over time.

What Is Math Ability?

Math ability refers to a person’s capacity to understand, process, and apply numerical concepts. It involves different skills such as basic arithmetic, understanding shapes and patterns, solving equations, and logical reasoning. These skills develop as children grow, and they can vary widely from one person to another.

True math ability goes beyond memorizing formulas. It includes how well a person can solve problems, recognize patterns, and think critically using numbers. Some pick up these skills very easily, while others need more time and practice.

You may want to read: Is Your Ability to Do Abstract Reasoning Hereditary?

What Causes Differences in Math Ability?

There are many reasons why people differ in their math skills. Some of these reasons come from environmental factors such as school quality, family support, and access to learning resources. Other reasons come from within the body, such as how the brain works, attention span, and memory. These are based on biological or genetic factors.

One major environmental factor is education. Children who have access to good teachers and early math experiences often perform better in math. Parents also play an important role. For example, parents who enjoy math or talk positively about it can pass that attitude onto their children, helping them feel more confident. Still, even in the same classroom or family, some children show more talent for math than others. This makes us wonder how much of math ability comes from a person’s genetics.

The Genetics Behind Math Ability

Genetics refers to the inherited instructions in our DNA that help shape how our bodies and brains develop. Scientists have used several research methods to explore the link between gene variants and math skills. One common method is twin studies. These studies compare identical twins, who share nearly all of their genes, with fraternal twins, who share about half. If identical twins are more similar in their math performance than fraternal twins, this suggests a genetic influence.

In one early twin study using data from over 6,000 twin pairs in the United Kingdom, researchers found that genetic factors explained about 60% of the differences in numerical and reading ability among children. This suggests that a significant portion of the variation in math skills could be linked to genetics, while the rest is shaped by environment.

A more recent study used another method, agenome-wide association study (GWAS). This type of study scans the entire genome to find specific genetic markers that are more common in people with higher math skills. So far, researchers have identified several genetic variants linked to educational achievement, including math. However, each of these variantshas only a small effect. This means no single gene controls math ability; instead, many genetic variants work together, each adding a smallinfluence into the combined effect which can be measured by calculating the so called polygenic risk score (PRS)

Math ability is considered a complex genetic trait, meaning it is influenced by many different genes rather than a single one. In the GWAS study, researchers studied the genetics of math ability in 1,146 Chinese elementary students by analyzing 11 different math skill areas, including reasoning, spatial awareness, and calculation. They discovered seven key genetic variants linked to these abilities. Specific genes were found to be connected to individual skills—for example, LINGO2 was associated with subtraction. The study also highlighted specific genetic links to addition, division, spatial understanding, and the perception of numerical magnitude.

One particular variant, rs34034296, was found to be strongly linked to reasoning skills and is located near the gene CSMD3, which has previously been associated with conditions like autism and schizophrenia. The researchers emphasized this is the first time these genes have been directly tied to math abilities. Professor Jingjing Zhao noted that different types of math skills may be influenced by different genes, and the research contributes valuable insight from a Chinese population, helping broaden the scope of genetic studies in education.

Gene-Environment Interaction in Math Learning

So, is math ability determined by genetics? The answer is, partly. Environment, education, effort, and support also play major roles. Genes may set the stage, but experience shapes the performance. Every child has the potential to improve in math with the right guidance and encouragement. Understanding the genetic side of learning can help us support students better.

Even though genes play a role in math ability, they do not act alone. The environment interacts with genetics in powerful ways. For example, a child who has a genetic advantage in math may still struggle if they are not exposed to quality teaching or if they feel anxious about math.

This is called a gene-environment interaction. It means that how a child’s genetics affects their learning can depend on their environment. For instance, children with high polygenic scores for math ability tend to do better when they attend schools with strong math programs. In contrast, if these same children are in less supportive environments, they may not reach their full potential.

Interestingly, children with lower genetic scores can still do very well in math if they receive strong educational support. This highlights the importance of nurturing every child, regardless of their genetic makeup.

Math Ability and Your DNA through Personality & Cognition Report

Your talent with numbers might be partly written in your genes. The LifeDNA Personality & Cognition Report looks at how certain genetic markers, like those in the SPOCK1 gene, may be linked to math ability. Studies have found that variations in this gene, which supports brain development, are connected to how well some people do in math.

With this report, you can discover how your DNA might influence your natural skills in areas like math. While learning and environment matter too, knowing your genetic strengths can help you better understand how you think and learn.

References

https://pmc.ncbi.nlm.nih.gov/articles/PMC7580992/#

The Role of Genetics in Hunger Response Control

Catherine on March 10, 2025

Overview

Why do some people always feel hungry while others can go hours without eating? Why do some crave sweets while others prefer salty foods? The answer lies partly in our DNA.

Hunger is not just a simple feeling but a result of various signals from hormones, brain circuits, and even the gut. These systems work together to maintain energy balance and ensure that our body gets the nutrients it needs. While genetics play an important part for how this system operates, factors like physical activity, emotional well-being, and even food availability can impact hunger regulation.

With obesity, diabetes, and heart disease on the rise, understanding what drives our eating behavior has become more and more important. By understanding how our genes affect hunger response, we can better understand why some people feel hungry more often, struggle with cravings, or find it harder to maintain a healthy weight. This will help people have personalized approaches to nutrition, helping individuals make informed choices for long-term health.

What is Hunger Response Control?

Hunger response control is the system that helps our bodies know when to eat and how much to eat. This system works through signals from our hormones and brain that tell us when we’re hungry or full. A study shared that scientists in the past thought that our eating behavior was mainly controlled by these internal signals, helping our bodies keep energy levels stable. However, eating behavior is now understood to be influenced by a mix of internal and external factors.

External influences, like the availability of food around us, can make us eat more than we need. For example, today we are surrounded by easy-to-access, high-calorie foods, which may cause us to overeat. This is one reason why obesity and related diseases are becoming more common.

Even though our internal hunger and satiety signals are important, they sometimes aren’t strong enough to counteract the tempting food around us. This makes it harder to maintain a healthy balance between the food we need and the food we eat. The body’s hunger control system is important, especially when we’re in situations where we need more energy and it tells us to eat the right amount.

How is Food Intake and Appetite Controlled?

Food intake and appetite control are regulated by a combination of internal and external signals. These signals work together to balance energy intake and expenditure, ensuring that the body receives adequate nutrition while preventing overeating.

Internal Signals: These signals include hormones such as ghrelin, leptin, and insulin, which provide important information about the body’s energy status.

External Signals: Environmental factors like food availability, portion size, and even social settings can impact how much food we consume. Cues such as the smell of food, food advertisements, or the presence of others eating may trigger appetite and influence the amount of food we eat.

When the body requires energy, hunger signals are activated, prompting us to seek food. Once enough food has been eaten, satiety signals are triggered, helping to stop the eating process. However, this balance may be influenced by many factors, including our genetics, physical activity levels, and emotional states.

What Are the Components of Eating Behavior?

Eating Behavior is a complex processthat contributes to our desire to eat and is influenced by several different factors. The main components include:

Appetite: This is ….. natural desire to eat, driven by both physiological and psychological factors. It is distinct from hunger, which is the physical need for food. Appetite can be influenced by physiological (hormones, nutrient levels, and gut-brain signals), psychological (mood and emotions), external cues, and health and medical conditions.
Hunger: This is the body’s way of telling us we need food. When our energy levels drop, a hormone called ghrelin is released, sending a signal to the brain that it’s time to eat. This feeling gets stronger when we haven’t eaten for a while, encouraging us to find food.
Satiety: This is the feeling of fullness after eating, which tells our brain that we’ve had enough. It is controlled by hormones like leptin and PYY. Leptin helps curb appetite by letting the brain know our body has enough stored energy, while PYY is released by the gut to signal that it’s time to stop eating.
Food Preferences and Cravings: The types of food we enjoy and crave are influenced by both our genes and our surroundings. Some people naturally prefer sweet or salty foods due to their genetics. Our environment also plays a role, smelling or seeing tasty food can make us crave it, even if we’re not hungry.
Reward System: Eating may feel enjoyable because the brain releases dopamine, a chemical that makes us feel good. This happens when we eat foods we like, which can increase our desire to eat them again, even when we don’t actually need more food.

How Genetics Influence Eating Behaviors

Hunger and fullness (or satiety) signals are also controlled by genetics. The body produces hormones that regulate eating , and some people inherit variations in genes that affect how these hormones work. For example, the ghrelin gene influences how much of the “hunger hormone” ghrelin is produced. People with higher ghrelin levels may feel hungry more often and eat more frequently. On the other hand, the leptin gene helps regulate fullness. If someone’s brain doesn’t respond well to leptin, they might not feel satisfied after eating, which may lead to overeating.

Another way genetics influence eating behavior is through the brain’s reward system. When we eat, the brain releases dopamine, a chemical that makes us feel pleasure. Some people have genetic variations that make their brain release more dopamine in response to food, especially the highly processed, calorie-dense foods. This can make eating feel extra rewarding, encouraging habits like emotional eating or snacking even when not truly hungry.

While genetics set the foundation for these behaviors, they do not determine eating habits completely. Lifestyle choices, mindful eating, and physical activity may help balance hunger responses. Understanding how genetics influence eating behaviors help people make better food choices and develop healthier eating habits.

Key Genes Involved in Hunger Regulation

Our genes play an important role in controlling hunger.. Here are some of the key ones:

MC4R (Melanocortin 4 Receptor): This gene helps regulate energy balance. When it doesn’t work properly due to mutations, the brain struggles to recognize when the body is full, leading to increased hunger and a higher risk of obesity.
LEP (Leptin Gene) and LEPR (Leptin Receptor Gene): Leptin is a hormone that tells the brain when we have enough stored energy, helping to reduce appetite. Variations in these genes can cause leptin resistance, meaning the brain doesn’t get the message to stop eating, leading to overeating.
GHRL (Ghrelin Gene) and GHSR (Ghrelin Receptor Gene): These genes control how much ghrelin the “hunger hormone” is produced and how strongly the body responds to it. Higher ghrelin levels can make a person feel hungrier more often.
FTO (Fat Mass and Obesity-Associated Gene): This gene is linked to a stronger appetite and a preference for high-calorie foods. People with certain FTO variations may be more likely to eat more than they need, increasing their risk of weight gain.

Can You Modify Hunger Responses?

Individuals may take proactive steps to manage their hunger and maintain a healthy weight. Here are some ways to modify hunger signals and improve control:

Regular Physical Activity: Exercise has been shown to improve insulin sensitivity, which may help regulate hunger and prevent excessive food intake. Physical activity may also influence appetite-related hormones, leading to better control over when and how much we eat.
Balanced Eating Patterns: Eating smaller, more frequent meals can help stabilize hunger signals and prevent overeating. A diet rich in protein, fiber, and healthy fats can also promote satiety and reduce cravings for high-calorie foods.
Mindfulness and Conscious Eating: Practicing mindfulness, such as eating slowly and paying attention to hunger cues may help individuals distinguish between true hunger and emotional eating. This may lead to better hunger regulation and prevent overeating triggered by stress or external food cues.
Personalized Approaches Based on Genetics: People with genetic predispositions for increased hunger or difficulty feeling full may benefit from tailored strategies. For example, behavioral therapy can help reshape eating habits, while adjusting exercise timing and intensity may enhance natural control mechanisms.

LifeDNA’s Nutrition Report

LifeDNA’s Nutrition Report helps you learn how your genes affect your nutrition needs, food sensitivities, and how your body uses nutrients. These factors can also affect how hungry you feel. For example, if your body breaks down carbs quickly, you might feel hungry again soon after eating. If your body takes longer to process fats or proteins, you might feel full for a longer time. This report helps you choose foods that match how your body works.

It also looks at how your genes may affect food sensitivities like lactose or gluten. If your body has trouble with certain foods, it might not absorb nutrients well. This can confuse your hunger signals and make it harder to know when or what to eat. By understanding your unique nutrition needs, the report can help you better manage your hunger and feel more in control of your eating habits.

References

Genetic proclivity to OCD

Catherine on March 9, 2025

Imagine feeling trapped in a cycle of relentless thoughts and repetitive actions, unable to break free no matter how hard you try. For millions of people with obsessive-compulsive disorder (OCD), this is daily life. But why do some people develop OCD while others don’t? Could our genetics be the answer?

OCD affects more people than you might think. About 1 in 40 adults will experience it at some point, and at least 1 in 100 children and teens are already living with the condition. Understanding the underlying causes of OCD is crucial. By learning more about the disorder, we can raise awareness, encourage early diagnosis, and provide better support for those who struggle with it.

What Is OCD?

Obsessive-compulsive disorder (OCD) is a long-term mental health condition that affects millions of people around the world. It causes recurring, distressing thoughts (obsessions) that lead to repetitive actions (compulsions) in an attempt to relieve anxiety. These behaviors can take up a lot of time and interfere with daily life, making school, work, and relationships more difficult. OCD symptoms can be mild or severe, and they may change over time, sometimes getting worse during stressful situations.

You may want to read: How Genetics Influence ADHD: A Look at its Inheritance

What Causes OCD?

OCD develops due to a mix of genetic, brain-related, and environmental factors. Research shows that OCD can run in families, meaning some people may inherit a higher risk of developing the condition. If a close family member has OCD, there is a greater chance of developing it, although genetics alone does not determine who will have the disorder.

Certain areas of the brain function differently in people with OCD. Scientists believe that imbalances in brain chemicals like serotonin, may play a role in compulsive behaviors. Changes in brain activity can make it harder for someone with OCD to control intrusive thoughts and repetitive actions. Environmental factors can also contribute to OCD. Stressful life events, infections (such as PANDAS), or trauma may trigger symptoms or make them worse. While these factors do not directly cause OCD, they can play a role in how the condition develops and progresses.

What Are The Symptoms of OCD?

Understanding the symptoms of OCD is important so that those affected may get the right support and treatment. OCD symptoms fall into two main categories: obsessions and compulsions. Obsessions are intrusive thoughts or fears that cause anxiety, while compulsions are repetitive actions or mental rituals done to ease that anxiety. Some people experience both, while others may only have one. These symptoms can range from mild to severe, sometimes interfering with daily life.

Obsessions: Obsessions are persistent and distressing thoughts, images, or urges that a person cannot easily ignore. These thoughts often feel uncontrollable and create intense anxiety. Some common obsessive thoughts include:

Fear of germs or contamination
Disturbing or inappropriate thoughts
Excessive doubt and uncertainty

Compulsions: Compulsions are repetitive behaviors or mental rituals that a person feels they must do to prevent something bad from happening or to relieve anxiety. However, these actions do not bring lasting relief and can become exhausting. Common compulsions include:

Excessive washing and cleaning
Repeatedly checking things
Counting or repeating actions in a specific way
Arranging or organizing objects in a particular order
Silently repeating words or prayers

Is OCD Genetic?

Research suggests that OCD has a genetic component, meaning it can run in families. Studies estimate that OCD is 45-65% heritable, meaning nearly half of a person’s risk of developing the disorder may come from their genes. Scientists have also found that identical twins, who share all of their DNA, are more likely to both have OCD than fraternal twins, who share only about half. This suggests that genetics plays a strong role in the disorder.

However, genetics alone does not determine whether someone will develop OCD. Environmental factors, such as stress, infections, or traumatic experiences, can also influence symptoms. Even if someone has a genetic risk, they may not develop OCD unless other factors trigger it. Understanding the genetic and environmental influences on OCD can help researchers develop better treatments and support for those affected.

Genes Linked to OCD

Research suggests that OCD is associated with increased activity in certain brain regions, such as the orbitofrontal cortex and amygdala, which are responsible for decision-making and emotional responses. Genetic variations can influence the brain chemicals, or neurotransmitters, that play a key role in OCD.

Researchers have identified several genes that may play a role in OCD. One of these is SLC1A1, a gene involved in regulating glutamate, a neurotransmitter that affects brain function and compulsive behaviors. When this regulation is disrupted, it can contribute to obsessive thoughts and compulsions.

Other important genes include DRD4 and COMT, which are linked to dopamine signaling. Dopamine is a chemical in the brain that helps control motivation and decision-making. Variations in these genes may contribute to impulsivity and obsessive behaviors seen in OCD.

Another gene, HTR2A, influences serotonin levels. Serotonin helps regulate mood and anxiety, and imbalances in this system are commonly associated with OCD symptoms. While these genes do not directly cause OCD, genetic variation in these gene regions can increase a person’s likelihood of developing the disorder, especially when combined with environmental factors.

Altered Brain Chemistry in OCD

One of the most important neurotransmitters involved in OCD is serotonin, which helps regulate mood and anxiety. Many OCD treatments, such as selective serotonin reuptake inhibitors (SSRIs), work by increasing serotonin levels to reduce symptoms.

Another neurotransmitter linked to OCD is dopamine, which affects motivation and the brain’s reward system. When dopamine levels are imbalanced, it can lead to compulsive behaviors, making it harder for people with OCD to resist urges or stop repetitive actions.

Glutamate, a neurotransmitter involved in brain plasticity and learning, also plays a role. Changes in glutamate levels can contribute to obsessive thoughts and difficulty shifting focus. Can OCD be Treatable?

While OCD has a genetic component, there are treatment options that can help manage symptoms effectively. Medications, such as SSRIs, are commonly used to correct neurotransmitter imbalances and reduce obsessive thoughts and compulsive behaviors.

Another effective approach is cognitive-behavioral therapy (CBT), which helps individuals recognize and change thought patterns that trigger OCD symptoms. Exposure and response prevention (ERP), a form of CBT, gradually exposes individuals to their fears while preventing compulsive behaviors, helping them build tolerance to anxiety.

Future treatments may become more personalized as researchers continue studying the genetic basis of OCD. Advances in genetics could lead to targeted therapies designed to address specific brain chemistry imbalances, offering new hope for people struggling with the disorder.

References

Is Emotional Quotient (Intelligence) in Your DNA? The Genetic Side of EQ

Catherine on March 8, 2025

You’ve probably heard that being “book smart” isn’t enough to do well in life. But what if your ability to understand emotions and bounce back from stress is something you’re actually born with? Emotional Intelligence Statistics reveal that Emotional Quotient or EQ drives over 60% of personal and professional success, and may even account for 70% of a person’s life achievements. On top of that, people with high EQ enjoy better mental health and less daily stress. So, could emotional intelligence be hardwired into your genes? In this article, we uncover the genetic side of EQ and how it may shape your emotional health.

What Is Emotional Quotient?

Emotional intelligence, often called EQ, is the ability to recognize, understand, and manage your emotions, as well as the emotions of others. It’s not just about being aware of how you feel. It’s about knowing why you feel that way and how those emotions influence your behavior.

You may also want to read: Is Intelligence Genetic?

What Makes Up Emotional Quotient?

There are five key components of emotional intelligence, and these skills are important in every part of life, from your career to your personal relationships. When you develop emotional intelligence, it helps you communicate better, resolve conflicts more effectively, and support your overall emotional well-being. Here are the five components:

Self-Awareness: When you are self-aware, you can identify what you’re feeling in the moment and why you’re feeling that way. This helps you see how your emotions influence your actions, decisions, and interactions with others. Self-awareness allows you to recognize both your strengths and weaknesses, giving you the insight to grow, make better choices, and respond thoughtfully instead of reacting impulsively.

Self-Regulation: This is the ability to manage and control your emotional responses, especially in challenging or stressful situations. It doesn’t mean suppressing emotions but learning how to express them appropriately and constructively. People who practice self-regulation can pause and think before reacting, stay calm under pressure, and avoid making impulsive decisions they might regret. This skill helps create emotional balance, allowing you to stay focused, adaptable, and in control of your behavior, even when emotions are running high.

Motivation: refers to the inner drive that pushes you to pursue goals and improve yourself—not because of external rewards, but because you find purpose and satisfaction in what you’re doing. People with high emotional intelligence are usually self-motivated; they set personal goals, stay positive, and bounce back from setbacks. This kind of motivation is fueled by passion, curiosity, and a desire for growth, helping individuals stay focused and determined even when facing obstacles.

Empathy: goes beyond sympathy or simply feeling sorry for someone—it’s about putting yourself in another person’s shoes and seeing things from their perspective. When you practice empathy, you become more sensitive to how others are feeling, which helps you respond with care, kindness, and respect. Empathy is crucial in building meaningful relationships, resolving conflicts, and creating a supportive environment, whether at work, at home, or in your community.

Social Skills: are the abilities that help you communicate, connect, and interact effectively with others. They include listening actively, expressing yourself clearly, managing conflict, and working well in a team. Good social skills allow you to build strong, healthy relationships and navigate social situations with ease. People with high emotional intelligence use their social skills to influence, inspire, and support others while fostering collaboration and trust in both personal and professional settings.

Genetics on Emotional Quotient

Researchers in Russia recently explored whether certain genes could affect a person’s emotional intelligence or emotional quotient. The study focused on four genes: COMT, BDNF, DRD2, and HTR2A. To measure emotional intelligence accurately, they used the Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT). This method is considered more reliable than self-reported questionnaires because it evaluates real emotional skills rather than personal opinions.

Their results showed some interesting connections. The COMT gene, which influences how long brain chemicals like dopamine stay active, appeared to play a role. People who had the heterozygous Val158Met genotype (SNP rs4680-AG) in this gene scored higher on emotional intelligence tests. This specific genetic variant may help people regulate their emotions better and stay focused when recognizing emotions in others.

When looking at the BDNF gene, which is involved in brain flexibility and learning, the researchers found no clear link to emotional intelligence, although earlier studies suggested there might be a connection.

Another dopamin-related gene they examined was DRD2, which affects the number of dopamine D2 receptors in the brain. These receptors are important for motivation, reward, and emotional processing. The study found that people with the CC genotype of the SNP rs1800497 near the DRD2 gene, who have more dopamine receptors, scored higher on emotional intelligence tests. On the other hand, those with the CT genotype had lower scores. Previous research has also shown that having fewer dopamine receptors may be linked to emotional difficulties and a higher risk of developing addictions.

The final gene studied was HTR2A, which is related to serotonin receptors. Serotonin is another brain chemical that helps regulate mood and emotions. The researchers discovered that people with the AA genotype of the SNP rs6311 near this gene scored higher on emotional intelligence tests, while those with the GG genotype scored lower. It is possible that the homozygous AA variant helps the brain have more serotonin receptors, making it easier to understand and manage emotions.

The study showed that some people may naturally find it easier to handle emotions because of their genetics, especially due to variants in genes related to dopamine and serotonin—chemicals often called the brain’s “feel-good” messengers. However, the researchers also pointed out that emotional intelligence is not only shaped by genetics. Life experiences, education, and training play a big role in developing these skills.

Knowing how genetic variation might influence emotional intelligence can help explain why some people are naturally better at handling emotions, but it also shows that anyone can improve with the right support and practice.

Is Emotional Intelligence Something You Inherit?

While there may be some genetic influence on emotional intelligence, it is not the whole story. Unlike IQ, which stays mostly the same throughout adulthood and is largely inherited, emotional quotient is made up of many skills that can be learned and improved over time.

In fact, developing emotional intelligence is similar to learning any other skill. With practice and willingness to change, anyone can become better at recognizing emotions, managing feelings, and building stronger relationships. Studies have even shown that training can improve a person’s emotional intelligence and that these improvements can last for months. So, emotional intelligence is not totally fixed at birth. You can definitely strengthen your EQ through learning, practice, and being open to personal growth.

Can You Boost Your Emotional Quotient?

While some parts of emotional intelligence may be shaped by your genes, much of it can be learned and improved through practice. If you want to strengthen your emotional intelligence, here are some useful steps:

Start by understanding your emotions: Pay attention to how you feel in different situations. Try to identify your emotions and understand why you feel that way. Being able to recognize your feelings is the first step toward managing them better.
Ask people around you how they see you: Sometimes, we don’t realize how we react to stress, criticism, or emotional situations. Getting feedback from people you trust—whether it’s friends, family, or coworkers—can help you see things from another perspective. This can show you where you’re doing well and where you might need to grow.
Read and learn from different perspectives: Reading stories, books, or articles about people’s lives and experiences can help you understand how others think and feel. When you learn about the challenges and emotions of others, it becomes easier to develop empathy and connect with people in real life.
Encourage emotional awareness in others: If you want to create a space where emotional intelligence is valued—whether at home, school, or work—lead by example. Be open, respectful, and kind in how you communicate. Recognize and appreciate people who show empathy, teamwork, or emotional maturity. When positive behavior is noticed and encouraged, it inspires others to improve too.

References

What You Should Know About Achilles Tendinopathy

Catherine on March 7, 2025

Achilles tendinopathy doesn’t always come on suddenly. It usually develops over time from repeated stress on the tendon, such as running on hills, wearing the wrong shoes, or skipping your stretches. You might not notice it at first, but over time, the stiffness and swelling can interfere with even simple activities like walking or climbing stairs.

This slow build-up often means people delay getting help, risking more serious injury down the line. That’s why knowing the early symptoms, risk factors, and treatment options is key. Whether you’re dealing with mild irritation or more intense pain, it’s important to take action before the condition progresses. Early recognition and proper care can make a big difference in recovery time and long-term tendon health.

What is Achilles Tendinopathy?

Achilles tendinopathy is an injury of the overuse of the Achilles tendon. It most commonly occurs in runners who suddenly increase their intensity or distance, and in middle-aged people who engage in vigorous sports such as tennis or basketball on weekends. But even those who aren’t athletes may develop this condition due to everyday strain or other contributing factors.

This condition is marked by degeneration or small tears in the tendon caused by repetitive stress or mechanical overload. As we age, the Achilles tendon becomes less flexible and more prone to injury, especially if physical activity levels suddenly change.

What Are The Symptoms of Achilles Tendinopathy?

Achilles tendinopathy usually develops gradually and is possible to worsen over time if left untreated. Here are some symptoms:

Pain or stiffness in the back of the leg or above the heel, especially after physical activity
This is often an early sign of tendon strain. The pain typically starts as a dull ache that becomes more noticeable after walking, running, or standing for long periods. It happens because the tendon has been overworked and is starting to show signs of irritation or small tears.
Tenderness and swelling around the tendon
The area around the Achilles tendon may feel sore to the touch, and swelling can appear as the body reacts to inflammation. Swelling is usually more noticeable after activity and may come with a warm sensation.
A mild ache that becomes more severe after climbing stairs or sprinting
Movements that require quick, forceful actions like sprinting or going up stairs place extra pressure on the Achilles tendon. If the tendon is irritated, these activities can make the pain sharper and more intense.
Morning stiffness that improves with movement
Many people with Achilles tendinopathy feel a tight or stiff sensation in the back of the leg when they first wake up. This stiffness is due to reduced circulation and inactivity overnight. The discomfort usually fades after a few minutes of walking or stretching.
Difficulty walking
As the condition worsens, pain may interfere with normal walking. Even standing may become uncomfortable, especially if the tendon is inflamed or structurally weakened.
A visible lump or nodule may form on the tendon in severe cases
Long-term stress on the tendon can cause it to thicken or develop small, hard nodules. These lumps are a result of scar tissue forming in response to repeated injury and can make the tendon feel uneven or bumpy.
A sudden, sharp pain that feels like being hit in the back of the heel may indicate a tendon rupture
This is a serious symptom and may mean the tendon has torn. People often describe the feeling as if someone kicked them in the back of the ankle. It is typically followed by weakness, swelling, and difficulty using the foot. A rupture requires immediate medical attention and often surgical repair.

What Are The Degrees of Severity of Achilles Tendinopathy?

Achilles tendinopathy can range from mild discomfort to serious tendon damage. Understanding the level of severity can help guide treatment and prevent further injury.

Mild: At this stage, pain is usually felt during or shortly after specific physical activities, such as running or jumping. The discomfort often goes away with rest and might not interfere with daily tasks. However, this is an early sign that the tendon is being overworked and needs attention.
Moderate: As the condition progresses, the pain becomes more noticeable and may be accompanied by visible swelling around the tendon. In some cases, a small, hard lump—or nodule—can develop within the tendon itself. This lump is a sign of ongoing degeneration and scarring inside the tendon tissue.
Severe: At its most serious stage, pain is present even during simple weight-bearing activities like walking or standing. The discomfort can be constant and may limit daily movement. In rare cases, the tendon may partially or completely rupture, causing sudden, intense pain and requiring urgent medical treatment.

What Causes Achilles Tendinopathy?

Achilles tendinopathy can develop from a variety of physical, medical, and lifestyle-related factors. These causes often work together to put stress on the Achilles tendon over time.

Overuse or repetitive strain: Activities like running, jumping, or sudden increases in physical training can overload the tendon. This repeated stress can lead to tiny tears and long-term wear.
Age-related wear and tear: As people get older, the structure of the Achilles tendon naturally weakens. This makes it more prone to injury, especially in those who are active only occasionally.
Foot structure issues: Flat feet or feet that roll inward too much (a condition called hyperpronation) can place added strain on the Achilles tendon. These structural problems affect how forces travel through the foot and ankle during movement.
Tight calf muscles: If the calf muscles are not flexible, they limit ankle motion and increase tension on the tendon. This can contribute to pain and inflammation over time.
Improper footwear: Shoes that don’t offer enough support, especially if they are worn out, can affect how forces are absorbed during walking or running. Wearing high heels frequently can also shorten the Achilles tendon, reducing flexibility and increasing injury risk.
Obesity: Carrying excess weight increases the load placed on the tendon, particularly during walking, climbing stairs, or exercising.
Medical conditions: Certain health conditions, such as inflammatory arthritis, psoriasis, and high blood pressure, have been linked to tendon issues, possibly due to inflammation or reduced blood flow.
Cold weather: Tendons tend to be stiffer in cold environments, which may reduce their flexibility and increase the risk of injury during activity.
Sudden changes in training: Rapidly increasing the intensity, duration, or difficulty of physical training may overload the tendon before it has time to adapt.

Genetics on Achilles Tendinopathy

Studies have found specific genetic markers that may affect tendon strength, flexibility, and repair. One key gene, COL5A1, is involved in collagen formation, a protein essential for tendon structure and strength. Variants in this gene can lead to tendons that are less flexible, which increases the risk of injury when subjected to physical stress. This gene’s influence on tendon properties makes it a significant area of research for tendon injuries.

In addition to COL5A1, other genes like COL1A1, MMP3, and TNC have been linked to tendon health. COL1A1 is important for tendon strength, helping to form collagen type I, while MMP3 plays a role in tendon repair, influencing how tendons heal after injury. TNC, which codes for Tenascin-C, is involved in how tendons respond to strain, and variations in this gene, especially the number of GT repeats have been shown to contribute to the likelihood of tendon injury. These genetic differences may also affect the rate at which tendons heal, and some variations may slow down the healing process or lead to tendon degeneration over time.

While more research is needed to fully understand how these genes and their variants interact, it’s clear that genetic testing in the future could help identify individuals at higher risk for tendon injuries. Understanding how these genes influence tendon health could eventually help predict and prevent Achilles tendon injuries, offering a path to more personalized prevention strategies.

How is Achilles Tendinopathy Diagnosed?

Diagnosing Achilles tendinopathy typically involves a combination of questions, physical examination, and in some cases, imaging or lab tests. A doctor or physiotherapist will carefully assess several aspects of your health and symptoms to confirm the diagnosis.

Medical history and physical activity habits: Your healthcare provider will start by asking about your symptoms, medical history, and physical activity. Understanding how long you’ve had the pain, what activities make it worse, and whether there have been any changes in your exercise routine can help identify the underlying cause.
Physical examination: During the physical exam, the provider will check for tenderness, swelling, or thickening of the tendon. They may gently press on the Achilles tendon to locate the pain and assess the range of motion in your ankle. Observing how you walk or stand on your toes can also provide important clues.
Imaging tests: Depending on the severity of the symptoms, imaging may be used to get a clearer look at the tendon. X-rays can help rule out bone problems, while ultrasound and MRI scans offer detailed images of soft tissues, helping to detect tendon thickening, small tears, or inflammation.
Blood tests: If there is a possibility that an underlying inflammatory condition—like rheumatoid arthritis or another autoimmune issue—is contributing to the tendon pain, blood tests may be recommended to check for markers of inflammation or immune activity.

What Are The Treatment Options for Achilles Tendinopathy?

Most cases of Achilles tendinopathy improve with non-surgical treatment, especially when managed early. A combination of lifestyle changes, therapies, and supportive care is usually effective in relieving pain and restoring function.

Rest and activity modification: Reducing or avoiding high-impact activities like running, jumping, or climbing stairs gives the tendon time to heal. Switching to low-impact exercises such as swimming or cycling can help maintain fitness without overloading the tendon.
Ice therapy: Applying ice packs to the affected area for about 20 minutes at a time during acute flare-ups can help reduce inflammation and ease discomfort. This is especially helpful after physical activity or at the end of the day.
Anti-inflammatory medications: Short-term use of nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen, may help reduce pain and swelling. However, they should be used with caution and under a doctor’s guidance.
Physical therapy: A physiotherapist can guide you through specific exercises that focus on stretching and strengthening the calf muscles and Achilles tendon. Eccentric loading exercises—where the tendon is lengthened under tension—are particularly effective in promoting tendon healing.
Proper warm-up and cool-down routines: Incorporating warm-ups before exercise and gentle cool-downs afterward can improve circulation, flexibility, and reduce the risk of reinjury.
Supportive footwear: Wearing shoes with good cushioning and heel support can minimize stress on the Achilles tendon and help with overall stability during movement.
Corticosteroid injections: Injections directly into the Achilles tendon are generally avoided due to the risk of tendon rupture.