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The Genetic Side of Narcolepsy

Catherine on May 6, 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.

Everyone gets sleepy sometimes, but for people with narcolepsy, excessive daytime sleepiness goes far beyond normal tiredness. This chronic disorder causes sudden “sleep attacks” that interrupt daily life, starting most often during adolescence. Although narcolepsy may develop at any age, it most often begins during adolescence and affects about 1 in 2,000 people in the United States and Western Europe.

What is Narcolepsy?

Narcolepsy is a chronic sleep disorder characterized primarily by excessive daytime sleepiness. Individuals with narcolepsy experience an overwhelming urge to sleep several times a day, often resulting in sudden “sleep attacks.” These sleep episodes can last from seconds to minutes and sometimes lead to longer naps, after which the person feels refreshed.

However, narcolepsy is more complex than just daytime sleepiness. It also involves other symptoms that disrupt both daytime alertness and nighttime sleep.

You May want to Read: Genetics and Sleep: How Genes Impact Sleep Onset Latency

What Are The Symptoms of Narcolepsy?

Excessive Daytime Sleepiness (EDS): People with narcolepsy feel persistently tired throughout the day, with frequent urges to sleep that are difficult to control.
Sleep Attacks: These sudden bouts of sleep can happen at inconvenient moments, like during a meal or conversation, lasting seconds to minutes.
Cataplexy: Cataplexy is a sudden, brief loss of muscle tone triggered by strong emotions such as laughter, surprise, or anger. It can cause the person to slump or fall, occasionally leading to injury. Most people with narcolepsy experience cataplexy, but some do not.
Disrupted Nighttime Sleep: Many individuals with narcolepsy have trouble maintaining sleep at night. They often experience:

-Hypnagogic hallucinations: Vivid dreams while falling asleep
–Hypnopompic hallucinations: Vivid dreams upon waking
–Sleep paralysis: Temporary inability to move or speak when falling asleep or waking

What Causes Narcolepsy

Narcolepsy likely results from a combination of genetic and environmental factors. Research shows that many cases, especially those with cataplexy, involve the loss of specific neurons in the hypothalamus. Environmental factors play a role as well. These may trigger narcolepsy in people who are genetically at risk. Infections like strep throat, colds, or the flu may start the condition. The exact reason why the brain cells that control sleep (called hypocretin neurons) are lost is not fully known, but it may happen because the immune system attacks these cells by mistake.

Genetic Factors

Narcolepsy has a complex genetic component, although it rarely follows a straightforward inherited pattern. One of the key discoveries in recent years is the role of hypocretins also known as orexins, which are proteins produced by specific neurons in the brain that regulate wakefulness. While mutations in the hypocretin gene are very rare in humans, people with narcolepsy consistently show significantly reduced levels of hypocretins, suggesting a loss or dysfunction of the neurons that produce these proteins.

Research has also identified a strong association between narcolepsy and certain immune system genes, particularly the HLA-DQB1*0602 variant, which belongs to a group of genes called human leukocyte antigens (HLA). These HLA genes help the immune system distinguish the body’s own cells from foreign invaders. The close link between narcolepsy and the HLA-DQB1*0602 variant has led scientists to believe that narcolepsy may be an autoimmune disorder, where the immune system mistakenly attacks and destroys hypocretin-producing neurons in the brain.

Although there are rare familial cases of narcolepsy, most cases arise sporadically, influenced by a combination of genetic risk factors and possibly environmental triggers. The growing understanding of the genetic and immune-related mechanisms behind narcolepsy is important for developing future treatments that could replace missing hypocretins or prevent neuron damage.

You may want to Read: Deep Sleep: Is Sleep Depth Genetic?

How to Diagnose Narcolepsy?

A doctor will review your medical history to understand your symptoms and sleep patterns. Then, specialized sleep studies are performed, including polysomnography, which is an overnight test that monitors your brain waves, heart rate, breathing, and body movements during sleep. The Multiple Sleep Latency Test (MSLT), which measures how quickly you fall asleep during the day and whether you enter REM sleep too soon, may also be used.

How to Treat Narcolepsy?

Although there is no cure for narcolepsy, treatment focuses on managing symptoms to improve your quality of life:

Medications for Daytime Sleepiness: Stimulants are prescribed to help you stay awake and alert during the day.
Medications for Cataplexy and Hallucinations: Antidepressants or other drugs can reduce sudden muscle weakness (cataplexy), and control vivid dreams or hallucinations.
Lifestyle Changes: Practicing good sleep hygiene, such as maintaining a regular sleep schedule and creating a relaxing sleep environment, as well as scheduling short naps during the day may help manage symptoms.

Living with Narcolepsy

Narcolepsy is a lifelong condition with symptoms that often persist throughout life. However, with proper diagnosis and treatment, many affected individuals can manage their symptoms effectively.

The genetics of narcolepsy, particularly the loss of hypocretin-producing neurons linked to specific immune-related genes like HLA-DQB1*0602, exemplify how genetic factors can critically influence sleep disorders. Broader genetic research, as highlighted in the LifeDNA Sleep Report, shows that many genes contribute to daytime sleepiness and disrupted sleep patterns, reinforcing that sleep health is governed by complex interactions between genetics and environment. Understanding these genetic influences not only sheds light on conditions like narcolepsy but also advances our overall knowledge of sleep regulation, paving the way for more personalized and effective approaches to managing sleep disorders.

Awareness and understanding of narcolepsy are vital, as it is often underdiagnosed, especially in people with mild symptoms. If you or someone you know experiences excessive daytime sleepiness or sudden muscle weakness triggered by emotions, consulting a healthcare provider is crucial.

References

Understanding Actinic Keratosis

Catherine on May 5, 2025

Have you ever noticed small, rough patches on your skin after spending a lot of time in the sun? These spots might seem harmless at first, but they could be an early sign of skin damage known as actinic keratosis —a condition that, if left untreated, may lead to skin cancer.

Actinic keratosis (AK) is also known as solar keratosis. It is one of the most common skin conditions caused by long-term sun exposure. While it may seem like a harmless patch at first, AK is considered a precancerous lesion that could potentially develop into skin cancer. Understanding actinic keratosis, its causes, symptoms, treatment options, and prevention may lead to earlier detection, better management, and a lower risk of developing skin cancer.

You May want to Read: Your Skin Tanning or Sunburning Based on DNA

What Is Actinic Keratosis?

Actinic keratosis is a rough, scaly patch that develops on the skin after years of sun exposure. Men are more likely to develop actinic keratosis than women. It most commonly affects parts of the body that receive regular sunlight, such as the face, ears, scalp, neck, hands, and forearms.

These patches form when the skin’s cells are damaged by ultraviolet (UV) rays, leading to abnormal growth. Although actinic keratoses are not skin cancer, they are considered precancerous because they have the potential to develop into squamous cell carcinoma (SCC) if left untreated.

Who Gets Actinic Keratosis?

Anyone who spends a lot of time in the sun can develop actinic keratoses (AK), but certain individuals are at a higher risk than others. People with fair skin who burn easily, as well as those with a history of frequent sunburns, are more likely to develop these lesions. Spending long hours outdoors for work or recreation, especially in tropical or subtropical climates, further increases the risk. Visible signs of photoaging, such as wrinkles or dark spots, may also indicate a greater likelihood of developing AK.

Individuals with weakened immune systems, whether due to illness or medications are particularly vulnerable, as are also older adults; in fact, up to 25% of people over the age of 60 in parts of Ireland and England have at least one AK lesion. While living in a milder climate may reduce the risk somewhat, sun exposure over time may still lead to the development of actinic keratosis.

What Causes Actinic Keratosis?

The primary cause of actinic keratosis is damage to the skin’s DNA from ultraviolet B (UVB) rays. These rays penetrate the skin and disrupt the normal function of skin cells, causing them to grow abnormally. Over time, this damage builds up, leading to visible rough patches.

Other contributing factors include:

Aging: Skin becomes less able to repair itself as we get older.
Immunosuppression: People with weakened immune systems, such as transplant recipients, are more prone to AK.
Photosensitizing drugs: Certain medications may increase sensitivity to sunlight.

What Does Actinic Keratosis Look Like?

Actinic keratoses can vary in appearance and may be hard to identify at first. They are often small, rough patches that can feel like sandpaper. You might notice:

Flat or slightly raised spots
Scaly, crusty, or warty texture
White, yellow, red, pink, or brown coloring
Tenderness, or no pain at all
A gritty or dry feeling when touched

These lesions can appear alone or in clusters and tend to form on sun-exposed areas. In advanced cases, they may develop into thicker, wart-like plaques or even form a cutaneous horn, a growth that looks like a small spike.

You May want to Read: Unveiling the Genetics of Skin Dryness

Grading the Severity of Actinic Keratosis

Doctors may classify actinic keratoses based on their appearance to determine the best course of treatment. Here’s a simple grading scale:

Grade 1 (Mild): These lesions appear as flat, pink, or grayish patches that may be slightly rough to the touch. They are often hard to see and may feel more noticeable than they look. At this stage, sun damage is present but relatively limited.
Grade 2 (Moderate): Lesions become more visible and develop a thicker texture with noticeable scaling. These areas may look dry, flaky, or scaly, and are easier to detect both visually and by touch. This indicates a greater level of sun-induced skin damage.
Grade 3 (Severe): At this stage, the patches are significantly thickened and may have a rough, crusty surface due to a buildup of keratin (a skin protein). The lesions can appear red, yellow, or brown and may feel hard or wart-like. These changes reflect more advanced damage and a higher risk of progression to squamous cell carcinoma.
Grade 4 (Extensive): This grade involves larger areas—often several centimeters wide—that combine features of the previous three grades. These lesions may cover a broad area of sun-damaged skin, showing varying degrees of roughness, scaling, and thickening. Grade 4 lesions suggest extensive and chronic sun exposure and are closely monitored due to their elevated risk of developing into skin cancer.

In general, the higher the grade, the more severe the sun damage and the greater the concern for potential progression to skin cancer. Early detection and appropriate treatment are key to managing actinic keratosis and preventing complications.

Genetics on Actinic Keratosis

Research on Actinic Keratosis where scientists have studied the genes involved in actinic keratosis (AK) and a type of skin cancer called cutaneous squamous cell carcinoma (cSCC) suggests that both conditions share many of the same genetic changes. However, the past studies often have looked at only specific candidate genes and had limitations

A few studies have looked at all the coding genes in AK using a method called whole-exome sequencing (WES), but those studies so far have had very few samples. Based on these studies it is now known that both AK and cSCC often have mutations in important genes like TP53, NOTCH1, NOTCH2, and FAT1. These genes help control how skin cells grow and stay healthy.

Overall, the study shows that AK and cSCC are very similar genetically. One important difference is with a cell communication pathway gene called TGFβ, which may play a key role in turning AK into skin cancer.

Can Actinic Keratosis Turn into Skin Cancer?

Most actinic keratoses (AKs) go away with treatment, and about 90% of people with AKs do not develop skin cancer. However, many cases of squamous cell carcinoma (SCC), a common type of skin cancer, start as AKs.

The risk of one AK turning into cancer is low, but if you have many AKs or ongoing sun damage, your chances of developing skin cancer are higher. The most serious risk associated with actinic keratosis is the potential development of cutaneous squamous cell carcinoma (cSCC). While the chance of a single AK turning into cSCC is low, people with multiple AK lesions (more than 10) have a 10–15% chance of developing SCC over time. Warning signs of possible cancerous changes include:

Thickening or enlarging of the lesion
Ulceration or bleeding
Persistent tenderness or pain
Rapid growth

Because AK indicates extensive sun damage, affected individuals are also at higher risk for other types of skin cancer, including basal cell carcinoma (BCC), melanoma, and rare forms like Merkel cell carcinoma.

How Is Actinic Keratosis Diagnosed?

Most actinic keratoses may be diagnosed by a dermatologist during a visual skin exam. If the spot looks unusual or they’re not sure, they may do a skin biopsy. This means they gently remove a small piece of the skin so it can be checked under a microscope.

An examination by a dermatologist helps confirm if a suspicious lesion is actinic keratosis or something more serious, like skin cancer. If there’s any uncertainty or suspicion of skin cancer, a dermoscopy or skin biopsy may be performed to examine the lesion more closely.

How Is Actinic Keratosis Treated?

There are several effective treatments available for actinic keratosis (AK). The choice of treatment depends on how many lesions you have and their appearance. Here are some common treatments:

Cryotherapy: This is the most commonly used treatment. Liquid nitrogen is applied to freeze the AK, causing the damaged skin to blister and peel off. New, healthy skin then grows in its place. The procedure is quick and usually done in your provider’s office.
Medicated Creams or Gels: For multiple or hard-to-see AKs, your healthcare provider may prescribe medicated creams such as those with fluorouracil, imiquimod, or diclofenac. These medicines work by removing damaged cells but can cause redness, peeling, and burning sensation during treatment.
Excision: This involves numbing the skin, surgically cutting out the AK, and stitching the area closed. It is typically used for thicker or suspicious lesions and usually heals within two to three weeks.
Chemical Peels: During a chemical peel, a medical-grade chemical solution is applied to the skin to remove the top damaged layer. This allows new, healthy skin to grow. The treated area may be sore or red for a few days after the procedure.

How Can You Protect Your Skin?

Preventing further sun damage is the key to avoiding AKs and reducing recurrence. Effective prevention includes:

Using broad-spectrum sunscreen (SPF 30 or higher) daily, even in winter or cloudy weather; reapplied every 2 hours when outdoors.
Avoiding sun exposure during peak UV hours (10 a.m. to 4 p.m.).
Wearing sun-protective clothing, wide-brimmed hats, and UV-blocking sunglasses.
Seeking shade when outside.
Avoiding tanning beds and artificial UV light sources.

References:

Genetics of Mitral Valve Prolapse and its Health Impact

Catherine on May 3, 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.

What Is Mitral Valve Prolapse?

Mitral Valve Prolapse or MVP is a condition where one of the heart’s valves doesn’t close properly. The mitral valve is located between the left atrium and the left ventricle. In MVP, the flaps, also called leaflets, of this valve bulge or prolapse slightly backward into the left atrium when the heart contracts.

For most people, this doesn’t cause any serious health issues. In fact, many people don’t even know they have it until it shows up during a routine check-up. But in some cases, it may lead to complications like mitral regurgitation, when blood leaks backward into the atrium, irregular heartbeats, or rarely, more serious cardiovascular problems.

You may want to read: Unraveling The Genetics of Resting Heart Rate

What Causes Mitral Valve Prolapse?

Mitral valve prolapse or MVP happens when the valve between the heart’s left upper chamber (left atrium) and lower chamber (left ventricle) doesn’t close properly. Instead of closing tightly, the valve’s flaps—called leaflets—become floppy and bulge backward into the upper chamber during a heartbeat. But what causes this to happen? The answer often lies in the structure and strength of connective tissue, which forms the framework of the valve.

The mitral valve is made up of connective tissue that gives it flexibility and strength. Over time, this tissue can become stretched or weakened, which causes the valve leaflets to lose their shape and function. As people age, connective tissues throughout the body—including those in the heart—can gradually break down. This age-related wear and tear can weaken the valve and its supporting structures (like the chordae tendineae), increasing the chances of prolapse.This is especially true in people whose connective tissue is naturally more elastic or prone to damage.

Here are some specific the causes and how they affect the heart:

Associated medical conditions that affect body structure: Some health conditions, such as scoliosis or curvature of the spine or muscular dystrophy known as a group of genetic disorders that weaken muscles, may influence the way connective tissues develop or function. These changes in the connective tissue can also impact the heart valves, making a prolapse more likely.
Infections like rheumatic fever: In some people, a past infection like rheumatic fever, which can follow untreated strep throat may cause inflammation and scarring of the heart valves. This damage can permanently alter the valve’s shape and movement, leading to MVP.
Congenital (present at birth) MVP: Some people are born with slightly abnormal mitral valves due to genetic or developmental factors. In these cases, MVP may not show symptoms early in life but becomes noticeable later on, especially if the valve’s shape changes further with age.
Other connective tissue disorders: Certain inherited conditions such as Marfan syndrome or Ehlers-Danlos syndrome directly affect the strength and elasticity of connective tissue. These disorders can lead to floppy mitral valve leaflets and stretchy chordae tendineae, increasing the risk of MVP as part of a broader syndrome that may affect multiple organs and systems.
Lifestyle and environmental factors: Although less common as direct causes, factors like chronic high blood pressure, poor diet, lack of exercise, or long-term stress may indirectly contribute to valve weakening. These factors place extra strain on the heart over time, which may lead to structural changes, especially in people who are already genetically predisposed to MVP.

MVP can be a a result from a mix of genetic factors (see below), physical stress on the heart, and diseases that affect the body’s connective tissues. In many cases, the cause is a combination of inherited tissue characteristics and age-related changes.

Common Symptoms of Mitral Valve Prolapse

Many people with mitral valve prolapse (MVP) don’t notice any symptoms at all. But for those who do, the signs can vary from mild to more bothersome. They may also come and go over time. Here’s a closer look at what some of these symptoms might feel like:

Heart palpitations: You might feel like your heart is fluttering, pounding, or skipping beats. These unusual rhythms can be brief or last for several minutes, and they often happen even when you’re resting.
Chest discomfort: This isn’t usually a sharp pain. Instead, it may feel like a dull pressure, tightness, or an aching sensation in your chest. It can be unsettling, but it doesn’t always mean there’s a serious problem.
Fatigue: Feeling unusually tired or drained, even after a full night’s sleep or without doing much physical activity, is a common symptom. This kind of fatigue may feel different from typical tiredness.
Dizziness or lightheadedness: Some people feel unsteady, faint, or like the room is spinning. This can happen when standing up quickly or during periods of stress or exertion.
Shortness of breath: You may notice it’s harder to catch your breath, especially when you’re exercising, walking up stairs, or even lying flat. This can happen because the heart isn’t pumping blood as efficiently as it should.

These symptoms can vary from person to person and may not always be linked directly to MVP. However, if you experience them frequently or if they get worse over time, it’s important to talk to your healthcare provider. Keeping track of your symptoms can help guide proper diagnosis and treatment.

Is Mitral Valve Prolapse Genetic?

Studies suggest that mitral valve prolapse has a genetic component. While MVP can happen on its own, researchers have found that it can run in families, showing that genes play an important role.

One of the earliest signs of a genetic link was seen in families where several members had MVP. Some early cases suggested the condition might be passed down through the X chromosome, but later studies showed that autosomal dominant inheritance is more common. This means that if one parent has the genetic factor linked to MVP, their children have about a 50% chance of inheriting it.

There are different types of MVP based on how the valve tissue is affected. One type called myxomatous MVP, also known as Barlow’s disease, tends to happen in younger people and is strongly linked to inherited gene variants. Another type, called fibroelastic deficiency (FED), usually appears later in life and is more related to aging than genetics.

Several genes have been identified in relation to MVP, some playing a role especially in families with inherited forms. These include:

FLNA : This gene is linked to a rare X-linked form of MVP and can cause serious valve problems.
DCHS1: This gene helps with the structure and organization of heart cells, playing a role in how the valve develops.
DZIP1: This gene supports the function of cellular structures important for heart valve formation.

However, these rare genetic mutations only explain a small portion of MVP cases. Most people with MVP likely have common genetic variants, SNPs, which are tiny changes in their DNA that each slightly raise their risk of developing the condition. These were discovered through genome-wide association studies (GWAS), a type of research that looks at the entire genome to find patterns linked to disease.

What is interesting is that some family members may not show full-blown MVP, but instead may have early or subtle signs, like slight changes in valve structure. These early signs may still be genetically influenced and may develop into full MVP over time. In fact, studies have shown that children are more likely to develop MVP if their parents have even mild valve changes.

Researchers also think there may be a genetic link between MVP and other heart problems, such as ventricular arrhythmia or certain forms of cardiomyopathy. This suggests that MVP may be a part of a bigger genetic pattern affecting the heart’s structure and rhythm.

To understand these connections better, scientists use animal models. These models are bred to carry the same genetic changes found in humans with MVP. Studying how these changes affect heart structure and function helps researchers uncover the underlying causes and possible ways to treat or prevent MVP. Genetics plays a major role in MVP, especially in cases that run in families or appear at a young age. Both rare mutations and more common genetic traits contribute to how and when MVP develops. Recognizing this genetic connection is key to improving diagnosis, guiding family screening, and eventually finding better treatments.

How Is Mitral Valve Prolapse Diagnosed?

Mitral Valve Prolapse is often discovered during a routine physical exam. Your doctor might hear a distinctive clicking sound or murmur with a stethoscope, which can lead to further tests. If mitral valve prolapse or MVP is suspected, your doctor may order several tests to confirm the diagnosis and understand how well your heart is functioning. These tests can provide a clearer picture of your heart’s structure and rhythm. Common diagnostic tools include:

Chest X-ray or Cardiac MRI: These imaging tests are used in certain cases to view the size, shape, and overall structure of your heart. A chest X-ray can show if the heart is enlarged, while a cardiac MRI provides highly detailed images of the heart’s anatomy and function.
Echocardiogram: This is the most accurate and commonly used test to confirm MVP. It uses sound waves or ultrasound to create detailed images of your heart. Doctors can see the mitral valve’s leaflets in motion and check if they are bulging backward or leaking. With advanced 3D echocardiography, the images are even more precise, helping doctors assess the severity of the condition in real-time.
Electrocardiogram: This test records your heart’s electrical activity. It helps detect abnormal rhythms or arrhythmias that sometimes occur with MVP, especially if you’re experiencing palpitations or dizziness.

Is Mitral Valve Prolapse Dangerous?

Mitral valve prolapse (MVP) is usually not dangerous. Most people with this condition live normal, healthy lives without any serious problems. However, in some cases, MVP can lead to complications—especially if the valve’s flaps are more severely affected. The most common complication is mitral regurgitation, which happens when the valve doesn’t close properly and allows blood to leak backward into the upper chamber of the heart. This leakage can put extra strain on the heart and may cause symptoms like tiredness, shortness of breath, or reduced ability to exercise.

Another possible complication is arrhythmia, which means the heart beats irregularly. Some people may feel heart palpitations, fluttering, or even dizziness. While most arrhythmias are harmless, some may require treatment. A rare but serious risk is endocarditis, an infection of the heart’s inner lining or valves. People with damaged valves are more likely to develop this infection, which can be life-threatening and usually requires strong antibiotics or even surgery. In very rare cases, severe mitral valve damage can lead to heart failure. This happens when the heart can no longer pump blood effectively. Regular checkups and early treatment can help prevent these complications and keep the heart working well.

For many, it’s a manageable condition that doesn’t interfere with daily life. However, if you experience symptoms or are at higher risk of complications, there are several ways to take care of your heart and improve your quality of life.

Regular heart monitoring: Periodic checkups with tests like echocardiograms (ultrasound images of the heart) or electrocardiograms (ECGs) help track how well your mitral valve is working. These tests can catch early signs of valve changes or irregular heart rhythms, even before symptoms appear.
Medications if needed: Some people may be prescribed beta-blockers or other medications to help manage symptoms such as heart palpitations or to treat high blood pressure. These drugs work by slowing the heart rate and reducing the heart’s workload, helping you feel more comfortable and reducing your risk of complications.
Staying active with moderation: Physical activity is generally safe and encouraged for people with MVP, as long as it’s not too intense. Moderate exercise, like walking, swimming, or cycling, helps strengthen the heart and improve overall well-being. However, overexertion or intense endurance activities might not be suitable for everyone—your doctor can help you find the right balance.
Avoiding stimulants: Substances like caffeine, nicotine, or certain cold medications can sometimes make heart palpitations worse. Limiting or avoiding these stimulants may reduce uncomfortable symptoms and help keep your heartbeat more steady.
Managing stress: Emotional stress and anxiety can increase symptoms like chest discomfort or palpitations. Stress-reducing practices such as mindfulness, deep breathing, yoga, or cognitive behavioral therapy (CBT) can be especially helpful in improving both mental and heart health.

References

Understanding Parkinson’s Disease

Catherine on May 2, 2025

Not every tremor is simply a sign of getting older. For more than 10 million people worldwide, those subtle shakes and muscle stiffness are early clues to something more specific, the scared Parkinson’s disease. While it is most often linked to aging, commonly starting after age 60, it may, in rare cases, show up in someone much younger, especially when there’s a strong family connection.

As the second most common degenerative brain condition, understanding who Parkinson’s disease more likely affects is important for prevention, early detection, better treatment options, and improving quality of life for those living with this condition..

What Is Parkinson’s Disease?

Parkinson’s disease is a condition that affects the brain and causes problems with movement. It starts manifesting when nerve cells in the brain structure called the basal ganglia start to break down. Normally, these nerve cells make a chemical called dopamine that helps the brain send clear signals to muscles so your movements are smooth and controlled.

When the nerve cells in basal ganglia, especially those in substantia nigra, are dying , moving becomes harder, slower, and sometimes shaky. Parkinson’s disease usually gets worse over time and can also affect how people think, feel, sleep, and take care of themselves. Parkinson’s doesn’t just affect movement. It can also change your mood, memory, sense of smell, and even how you sleep or digest food.

What Causes Parkinson’s?

Scientists don’t know exactly what the main cause of Parkinson’s is, why these brain cells start to die, but they have found a few reasons that can increase the chance of getting Parkinson’s. One reason is related to a specific protein in the brain. In Parkinson’s disease, a protein called alpha-synuclein starts to fold the wrong way and clumps together inside the brain cells. These clumps can harm or kill the cells, making the disease gradually worse.

Genetics can also play a role, as genes are providing instructions inside our body for making proteins and how they should function. Some people may inherit rare genetic changes called mutations in certain genes that can raise their risk of Parkinson’s. Besides inherited factors, the environment also plays a role. Being around harmful chemicals for a long time may damage brain cells and increase the chance of Parkinson’s, especially if someone already has genetic factors that make them more vulnerable. However, exposure to these chemicals alone doesn’t guarantee someone will get the disease, it’s usually a mix of genetic and environmental factors working together.

Genetics on Parkinson’s

Scientists have found six main genes that may contribute to inherited forms of Parkinson’s. The genetic variations or mutations in these genes follow two types of inheritance patterns, autosomal dominant and autosomal recessive. In autosomal dominant cases, only one copy of the causal gene from either parent is enough to cause Parkinson’s.

Two of these genes are SNCA and LRRK2. The SNCA gene makes a protein called alpha-synuclein. When this gene is changed, the protein can build up in brain cells and damage them. This was the first gene ever linked to Parkinson’s and is known to cause early symptoms. The LRRK2 gene helps cells deal with stress. A change in this gene can disrupt that function and lead to Parkinson’s.

Other four genes playing a role in Parkinson’s are Parkin, PINK1, DJ-1, and ATP13A2, all of which are involved in autosomal recessive Parkinson’s. This means a person needs to inherit two changed copies of the gene (one from each parent) to develop the disease. Parkin helps clean up damaged proteins in cells. When it doesn’t work right, toxic waste builds up and harms brain cells. This often causes Parkinson’s at a younger age. PINK1 works with Parkin to protect the cell’s energy centers called the mitochondria, and mutations in this gene can also cause early-onset PD. DJ-1 helps protect cells from stress, and if this gene doesn’t work properly, the brain may be more easily damaged. Finally, ATP13A2 helps manage certain metals in brain cells, and changes in this gene can lead to more serious forms of Parkinson’s, including memory and balance problems.

Several studies have looked at more common genetic differences that don’t directly cause Parkinson’s but can raise the chances of developing it. These are called genetic risk factors. Scientists use a method called genome-wide association studies (GWAS) to look at hundreds of thousands of tiny genetic changes called SNPs. By comparing people with and without a disease, they can find which genetic changes are more common in those with the disease. These clues point to several different parts of the DNA that may play a role in Parkinson’s. Some earlier studies (so called gene candidate studies) have focused on specific genes they believed might be important, but not all of those findings held up in later research with larger data sets.

Understanding the genetics of Parkinson’s helps scientists learn how the disease starts and who are more likely to get it and how. This knowledge may lead to better ways to diagnose, treat, and possibly prevent it. Genetic testing may not be necessary for everyone, but it can be helpful if someone develops Parkinson’s at a young age or has a strong family history of the disease. As research continues, also novel treatments based on genetics may be developed in the future.

What Are The Common Symptoms of Parkinson’s?

Parkinson’s disease can look different in each person, but some symptoms are common due to the brain losing its ability to control movement smoothly. Here are the main signs to watch for:

Tremors: Shaking that usually starts in the hands or fingers when they are at rest. This shaking happens because the brain is not sending steady signals to the muscles, making them twitch uncontrollably.
Slowness of movement (bradykinesia): Movements may become slower, smaller, or harder to do. For example, walking, getting dressed, or even smiling might take more time and effort than before.
Stiff or rigid muscles: Muscles may feel tight and hard to move. This stiffness can make bending joints or turning the head uncomfortable and reduce how far you can move.
Balance and posture problems: Some people develop a stooped or bent-forward posture. They may also have trouble staying steady while standing or walking, which increases the chance of falling.
Changes in speech or writing: Voice can become softer, quieter, or more monotone, making it hard for others to hear. Handwriting often changes too, becoming smaller and cramped, a condition called micrographia.

Each of these symptoms happens because the brain’s dopamine levels drop, weakening the communication between the brain and muscles. This causes the movement problems that are common in Parkinson’s disease.

How Parkinson’s Is Diagnosed?

Diagnosing Parkinson’s disease can be challenging because there isn’t a single test that can confirm it. Doctors usually use a combination of methods, including:

Medical history: Doctors ask about symptoms, family history, and overall health to understand what might be causing the problems.
Neurological exams: These exams check movement, muscle strength, reflexes, coordination, and balance to look for signs of Parkinson’s.
Imaging scans: In some cases, doctors use brain scans like MRI or DaTscan to rule out other conditions or support the diagnosis.
Observation of symptoms over time: Because Parkinson’s symptoms develop gradually, doctors often watch how symptoms change or progress to make a more accurate diagnosis.

Sometimes, symptoms of Parkinson’s can look like those of other diseases, so doctors must carefully rule out other possible causes before confirming the diagnosis.

Can You Prevent Parkinson’s?

Currently, there is no known way to completely prevent Parkinson’s disease, partly because the exact cause isn’t fully understood,.However, some lifestyle choices and habits might help lower the risk by supporting brain health:

Stay Active: Regular physical exercise is one of the best ways to keep your brain and body healthy. Exercise can improve muscle strength, balance, and overall brain function.
Healthy Diet: Eating a balanced diet rich in fruits, vegetables, whole grains, and healthy fats supports overall health and may protect brain cells.
Avoid Toxins: Exposure to certain chemicals, like pesticides and herbicides, has been linked to a higher risk of Parkinson’s. Minimizing contact with these substances when possible may help reduce risk.
Protect Your Head: Head injuries might increase the risk of Parkinson’s. Wearing helmets during activities like biking or sports can help prevent brain injury.
Regular Checkups: If you have a family history of Parkinson’s, regular visits to a healthcare provider can help catch early symptoms and manage them sooner.

Even though Parkinson’s can’t be fully prevented, these habits can support your brain’s health and improve quality of life.

Is There a Cure for Parkinson’s?

There’s no known cure for Parkinson’s. However,, there are many treatments that may help manage symptoms and improve quality of life.

Medications: Most often, doctors prescribe drugs that increase dopamine or mimic its effects. One of the most common is levodopa. Additional medicines can help with fatigue, constipation, depression, sleep problems, sexual dysfunction, anxiety, hallucinations, and dementia.
Physical Therapy: Regular exercise and specially designed movements help keep your muscles strong and flexible. Physical therapy can improve balance, reduce stiffness, and make daily activities easier. It also helps prevent falls by improving coordination and stability.
Speech Therapy: Parkinson’s can make speaking substantially harder, causing the voice to become softer or speech to sound slurred. Speech therapists work with people to strengthen the muscles used for talking, and can teach techniques to improve volume, clarity, and communication skills.
Surgical Options: When medications aren’t enough to control the symptoms, surgery may be an option. One common surgery is Deep Brain Stimulation (DBS) surgery. For DBS, doctors implant tiny electrodes in specific areas of the brain that control movement. These electrodes send gentle electrical pulses to help reduce shaking, stiffness, and other symptoms. Unlike traditional surgeries that can permanently damag brain tissue, DBS can be adjusted or turned off if needed. This treatment is usually considered for people in later stages of Parkinson’s or those who have symptoms that don’t respond well to drugs.

References

Is Multiple Sclerosis Genetic?

Catherine on May 1, 2025

Overview

Imagine waking up and your arm feels numb, or your vision suddenly blurs for no reason. Other days, your body just doesn’t respond the way it should. These are some of the invisible and confusing signs of Multiple Sclerosis or MS. But where does it come from?

Researchers are still working to understand the full picture. What we do know is that MS involves a mix of genetics, environmental triggers, and how the immune system behaves. Learning more about MS, especially its possible causes and early signs, may help people make informed choices about their health and lifestyle.

What Is Multiple Sclerosis?

Multiple Sclerosis, or MS, is a long-term condition that affects the central nervous system. It affects mainly the brain and spinal cord. MS can show up in a lot of different ways, some people feel extreme tiredness, others may have numbness, muscle weakness, or problems with balance and coordination. In MS the body’s own immune system, which is supposed to defend you from outside invaders, mistakenly attacks your healthy cells. In this case, it targets the protective covering of nerve fibers, called myelin. When myelin gets damaged, its signaling slows down or is bloced between the brain and the rest of the body.

What Are The Types of Multiple Sclerosis?

MS can show up in different ways. Here are five types Doctors use to describe how it behaves:

Clinically Isolated Syndrome (CIS)
This is a first episode of symptoms caused by inflammation in the brain or spinal cord. It may affect vision, movement, or sensation. The symptoms usually go away fully or almost fully. Even if this is the only episode, tests like an MRI or spinal tap may show hidden damage. If the damage is found, doctors may confirm a diagnosis of MS.
Relapsing-Remitting MS (RRMS)
This is the most common form of MS. People with RRMS have attacks of symptoms called relapses followed by times of recovery called remissions. These quiet periods may last for weeks, months, or even years. Special treatments may help reduce how often the attacks happen or may stop them completely. Most people are first diagnosed with this type.
Secondary-Progressive MS (SPMS)
This type usually develops after relapsing-remitting MS. Over time, relapses become less common or may stop, but symptoms slowly get worse. If attacks still happen, it is called “active” SPMS. If there are no more attacks, it is called “non-relapsing.” Treatment during the early stage may slow or delay this phase, but it may still occur.
Primary-Progressive MS (PPMS)
This form of MS gets worse from the start. There are no clear attacks or recovery periods. Symptoms slowly build over time. Some days may feel better or worse, but the general trend is steady decline.
Radiologically Isolated Syndrome (RIS)
This is the rarest form of MS. A person has no symptoms, but an MRI scan shows signs of MS-like damage. Even though the person feels fine, symptoms may develop later on.

What Causes Multiple Sclerosis?

While there’s no single cause, scientists believe Multiple Sclerosis or MS happens when several factors come together. One could be when the immune system mistakenly attacks the body’s own central nervous system. In this condition, the immune system targets myelin, which is a mixture of protein and fatty acids that form a protective coating, known as the myelin sheath, around nerve fibers or axons.

Myelin not only insulates the nerves but also plays an important role in helping signals travel quickly and clearly between neurons. This is also what gives the brain’s white matter its pale appearance. The immune attack in MS is focused on the central nervous system, which includes the brain, spinal cord, and optic nerves that connect the eyes to the brain.

The damage in MS goes beyond just the myelin sheath. Over time, it also affects the axons themselves and the nerve cell bodies located in the brain’s gray matter. As the disease progresses, the brain’s outermost layer, known as the cerebral cortex, begins to shrink, a process called cortical atrophy. The way cortical atrophy occurs in MS may share similarities with what is seen in some neurodegenerative conditions.

The term sclerosis refers to the areas of hardened, scar-like tissue also called plaques or lesions that develop where the immune system has attacked. These plaques can be tiny, about the size of a pinhead, or large, like a golf ball. They can be seen on magnetic resonance imaging or (MRI) scans. Symptoms of MS depend on the size, number, and location of these plaques in the nervous system, leading to different effects in each individual.

MS most often begins in early adulthood, usually between the ages of 20 and 40. This pattern has prompted scientists to suggest that environmental triggers and genetics are involved.

Genetics on Multiple Sclerosis

Studies have shown that MS risk is strongly linked to the immune system, and especially a gene called HLA-DRB1. This gene helps control how the immune system responds to threats, and certain genetic variants in it increase the chance of developing MS.

With better research tools like Genome-Wide Association Studies (GWAS), scientists have found over 200 genetic variants linked to MS. Most of these have small effects on their own, but together they help explain why some people are more at risk.

Most of these genetic changes aren’t in the parts of DNA that code for proteins. Instead, they’re in regions that control when and how genes are turned on or off. For example, some changes affect genes like IL2RA, IL7R, and TNFRSF1A, which are important for how the immune system works. These small changes might increase the chance of the immune system attacking the body by mistake, which happens in MS. That’s one reason why these diseases can sometimes run in the same families.

Another study shows that identical twins who have the exactly same genes have a much higher chance of both getting the MS, which is about 25% to 30%, compared to fraternal twins, who share only some of their genes and have a risk of about 3% to 7%. This means that genes do play a role in MS, but they are not the only reason someone gets the disease.

Research has also looked at large groups of people to estimate how much of MS is linked to genetics. One study from Sweden says that about 64% of the risk comes from genetics, while the rest is due to things in the environment or lifestyle. Another study from Italy found a similar result, with genetics making up about half of the risk.

How Do Environmental Factors Come Into Play?

Having a genetic risk doesn’t mean MS is inevitable. A person’s environment and lifestyle can influence whether or not the condition actually develops. Some of the more studied triggers include:

Sunlight & Vitamin D: People who live in places with less sunlight often have higher rates of MS. That’s probably because sunlight helps your body produce vitamin D, which supports healthy immune function.
Viral Infections: One of the strongest connections is with the Epstein-Barr virus (EBV). This virus causes mononucleosis, and people who’ve had it may be more likely to develop MS later in life.
Smoking: Tobacco use has been linked to increased MS risk, particularly for those who already carry genetic markers for the condition.
Childhood Obesity: Some studies suggest that being significantly overweight in early life may also raise the risk, possibly by affecting the immune system development.

How Is Multiple Sclerosis Diagnosed and Managed?

Although there is no cure for MS yet, there are many ways to manage it and help people feel better:

Medication Management: Some supplements or medications can help lower the number of relapses and may slow down how fast symptoms get worse. These treatments are often used long-term to help manage the condition over time.
Steroids: Steroids are often used during a relapse. They help calm the inflammation in the brain or spinal cord, which can shorten the length of an attack.
Physical Therapy: Exercise and movement programs led by a therapist can help with balance, strength, and flexibility. This can make daily activities easier and help with muscle stiffness or weakness.
Lifestyle Support: Healthy daily habits are very important. Getting enough sleep, staying active, eating a balanced diet, and finding ways to manage stress can all improve how a person feels and lives with MS.

References

Is Raynaud’s Disease Genetic?

Catherine on April 15, 2025

Imagine this: it’s a chilly day, and as you step outside, your fingers suddenly turn white, then blue, and maybe even red, accompanied by a tingling or numb sensation. For most people, cold hands are just a passing discomfort, but for those with Raynaud’s disease, these episodes are a recurring and sometimes painful reality.

While the condition has been recognized for over a century, scientists are now digging deeper into its roots, particularly the role genetics plays in making some people more susceptible. So, what exactly is Raynaud’s, and how do our genes contribute to this curious condition? Let’s explore the science behind this condition in a way that’s clear and engaging, even if biology isn’t your daily cup of tea.

Raynaud’s disease, sometimes called Raynaud’s phenomenon, is a condition where blood vessels in the extremities, typically the fingers and toes, overreact to cold temperatures or stress. During an episode, these blood vessels clamp down more than they should, reducing blood flow and causing the affected areas to change color and feel cold or numb. For some, it’s a mild annoyance, but for others, it can lead to discomfort, pain, or even sores in severe cases.

Types of Raynaud’s Disease

There are two types of Raynaud’s: primary and secondary. Primary Raynaud’s is the more common form, often appearing in younger people, especially women, and isn’t usually linked to other health problems. Secondary Raynaud’s, on the other hand, is tied to other conditions, like autoimmune diseases ( lupus or rheumatoid arthritis) or injuries, and tends to be more serious. While cold and stress are well-known triggers, researchers have long suspected that genetics might explain why some people develop Raynaud’s while others don’t.

Genetics

Twin studies have indicated a significant genetic component in Raynaud’s. A 2007 study estimates the heritability of Raynaud’s to be around 55% based on 700 monozygotic and 726 dizygotic twins.

Studies have shown that genes influencing how blood vessels contract and relax are obvious candidates. Some variants in genes like ADRA2A and EDN1, which help regulate blood flow, might make the blood vessels more likely to constrict in response to cold.

A large meta-analysis published in 2024 found eight genes linked to extreme constriction of blood vessels in response to the cold. This includes genes affecting blood vessel movement, the lining of blood vessels, and the immune system. Two genes, ADRA2A and NOS3, were shown to directly affect how strongly blood vessels respond to cold.

ADRA2A gene provides instructions for making a protein called the alpha-2A adrenergic receptor. This receptor sits on the surface of certain nerve and muscle cells and plays a key role in how the nervous system controls blood vessel tone, especially in response to stress or cold. Two large studies published in 2023 show the robust genetic foundation of Raynaud’s. First is a genome-wide association study (GWAS) which showed the role of a genetic variant at alpha 2A-adrenoreceptor encoded by ADRA2A (SNP rs7090046). Another large 2023 GWAS study on 11,605 individuals diagnosed with Raynaud’s (and more than 1 million controls) showed that overactive adrenergic signaling through ADRA2A is a key cause of Raynaud’s.

The NOS3 gene (Nitric Oxide Synthase 3) provides instructions for making an enzyme called endothelial nitric oxide synthase (eNOS). This enzyme is primarily found in the endothelial cells that line blood vessels, and its main job is to produce nitric oxide (NO) — a gas that acts as a natural vasodilator. In Raynaud’s, where blood vessels constrict too much in response to cold, a lack of nitric oxide can make things worse. If the eNOSis underactive or its function is disrupted, the body may produce less nitric oxide, leading to excessive vasoconstriction and poor blood flow to the fingers and toes.

Epigenetics

Beyond inherited DNA, scientists are exploring epigenetic changes. These are factors that influence gene activity without altering the DNA sequence. Things like chronic stress, infections, or even hormones might switch certain genes on or off, making someone more likely to develop Raynaud’s later in life. This may explain why symptoms often appear in young adulthood, and why women are more frequently affected (potentially due to hormonal influences).

Why is early diagnosis important?

Diagnosing Raynaud’s disease early is important because this can help prevent complications, identify underlying conditions, and improve quality of life.

Here’s why early diagnosis matters:

Primary Raynaud’s is usually harmless and manageable. Secondary Raynaud’s can be a sign of serious autoimmune diseases like scleroderma, lupus, or rheumatoid arthritis. Early diagnosis also helps doctors run the right tests and catch the condition in its early stage, when treatment is more effective. Knowing the type and severity of Raynaud’s early allows for:

Lifestyle changes (like avoiding cold or quitting smoking)
Medications to improve blood flow
Regular monitoring for signs of autoimmune conditions

References

Genetic Response to Lithium Orotate

Catherine on April 14, 2025

Lithium orotate is gaining attention as a natural supplement with potential benefits for mental health, mood stability, and neurological function. Unlike the pharmaceutical form of lithium used in higher doses to treat bipolar disorder, lithium orotate is a compound made by binding lithium to orotic acid, which is thought to improve its absorption and delivery into cells. But how does this supplement work in the body, and how might genetics influence its effects?

You might want to read: Bacopa Monnieri and Genetics: The Effect on Brain Health

What Is Lithium Orotate?

Lithium is a naturally occurring trace element found in the earth’s crust, water sources, and some food items. It has long been used in medicine, especially in the form of lithium carbonate, to manage severe mood disorders like bipolar disorder. Lithium orotate is a different form, it contains a lower dose of elemental lithium, typically around 1-5 milligrams per tablet, compared to the much higher doses used in prescription lithium medications.

The orotate salt is thought to cross cell membranes more easily, delivering lithium to where it is needed without requiring high doses. This has led to the supplement’s popularity among those seeking mood support without the side effects often associated with prescription lithium.

Benefits of Lithium Orotate

Lithium orotate is believed to offer several benefits, particularly in the areas of mental and emotional health. These include:

Mood stabilization: It may help reduce mood swings and promote emotional balance.
Neuroprotection: Research suggests lithium may protect brain cells and promote the growth of new neural connections.
Reduced anxiety and irritability: Low-dose lithium is thought to help calm the nervous system.
Cognitive support: Some early evidence points to improved memory and learning.

Although most studies on lithium’s neuroprotective effects involve higher prescription doses, lithium orotate may provide subtle support over time, especially when used in combination with a healthy lifestyle and other nutrients.

How Lithium Orotate Works in the Body

Lithium acts on several biological pathways in the brain. It modulates neurotransmitters like dopamine, serotonin, and glutamate, which influence mood, motivation, and stress response. It also inhibits a key enzyme known as glycogen synthase kinase-3 (GSK-3), which is involved in inflammation and neuronal signaling. By reducing GSK-3 activity, lithium can promote the survival of brain cells and enhance synaptic plasticity—our brain’s ability to adapt and form new connections.

Lithium also increases levels of brain-derived neurotrophic factor (BDNF), a protein essential for brain health, memory, and mood regulation. Higher BDNF levels are associated with better mental resilience and reduced risk of depression.

Genetic Response to Lithium Orotate

Not everyone responds to lithium in the same way, and our genetics plays a key role in this variability. Several genes influence how lithium is absorbed, transported, and used in the body. Lithium in higher doses is a medicine used to treat bipolar disorder, but it doesn’t work the same way for everyone. Scientists think that differences in our genes might explain why some people respond well to lithium and others do not.

Some studies have looked at the entire human genome to find regions that might be linked to how people respond to lithium. These studies found several regions on different chromosomes that might be important. For example, some research pointed to loci on chromosomes 20, 15, 14, and 8 as possibly involved. One recent study in 2020 focused on a Japanese family and found a gene called DOCK5 on chromosome 8 that might be related to lithium response.

But here’s the problem: different studies have found different regions. This indicates there probably isn’t just one gene that controls lithium response. Instead, many genes may each have a small role like with many other polygenic traits.

Several studies have looked closely at certain genes that might affect lithium response. Three genes come up a lot: GSK3β, BDNF, and SLC6A4. Genetic variants in these genes seem to be linked to either good or poor response to lithium. But not all studies agree on the very loci For example: For the BDNF gene, a variant called Val66Met was connected to lithium response in some studies, but not in others. Same for the SLC6A4 gene.. For the GSK3β gene, several gene variants have been found to berelated to lithium response, but results vary. This means that while these genes are likely to be important, their effects can differ depending on other factors.

In any case, genetics do play a part in how well lithium works for someone with bipolar disorder. But it’s not as simple as one “lithium response gene.” Many genes likely work together, and other factorslike the environment may also affect the response. Understanding these genes and other factors better could help doctors personalize lithium treatment in the future.

Sources of Lithium Orotate

Lithium is naturally present in small amounts in some food items and water supplies, especially in mineral-rich areas. However, the lithium content in food is generally too low to have a therapeutic effect. Supplementation with lithium orotate provides a consistent, low dose that may support mental well-being.

Lithium orotate supplements are widely available in health stores and online, usually in tablet form containing 1 mg to 5 mg of elemental lithium. It’s important to read labels carefully, as the total weight of lithium orotate is not the same as the elemental lithium content.

Who Might Benefit from Lithium Orotate?

Lithium orotate may be particularly helpful for individuals experiencing:

Mild mood instability or irritability
Chronic stress or burnout
Low resilience to emotional challenges
Cognitive fog or mental fatigue
A family history of mood disorders

Some people also take it to support recovery from brain injury, although more research is needed in this area. Since the dose is much lower than prescription lithium, it may offer a gentler way to support brain health and emotional balance.

Precautions and Side Effects

While lithium orotate is considered safe for many people at low doses, it’s not suitable for everyone. Individuals with kidney disease, thyroid problems, or those taking medications that influence lithium levels should use caution and consult a healthcare provider before starting supplementation.

Even at low doses, some people may experience side effects, especially with long-term use or if sensitivity is high. These may include:

Nausea or digestive discomfort: Some people report feeling queasy or experiencing mild stomach upset after taking lithium orotate. This may be due to how the body processes lithium or how the supplement is absorbed.
Mild tremors: A fine, involuntary shaking in the hands or fingers can occasionally occur. This is more common with higher doses of lithium but has also been reported in sensitive individuals at lower doses.
Increased thirst or urination: Lithium can affect how the kidneys manage fluids. As a result, you might feel thirstier than usual or notice that you’re urinating more often. This is usually mild but should be monitored.
Brain fog or sluggishness: Some users report feeling mentally dull, tired, or slow in their thinking after taking lithium orotate. This cognitive fatigue may result from how lithium influences brain chemistry in certain individuals.

These effects are generally uncommon with the low lithium content found in lithium orotate, but it’s still important to monitor your response. If any of these symptoms persist or worsen, it’s best to pause use and consult with a healthcare provider. Routine lab tests are not typically required with lithium orotate, but those using it regularly may benefit from periodic kidney and thyroid checkups to ensure long-term safety.

Personalized Lithium Supplementation

As interest in personalized health grows, more people are turning to genetic testing to determine how their bodies respond to various supplements. Lithium orotate is a prime candidate for such an approach.

Lithium orotate offers a promising, low-dose option for supporting mental health and brain function. While it doesn’t replace prescription treatment for serious psychiatric conditions, it may benefit those looking for natural ways to enhance emotional balance and cognitive well-being. Genetics play a key role in determining who benefits most, making personalized approaches the future of supplementation.

It is important to note to always consult a healthcare provider before starting any new supplement, especially one that affects brain chemistry. With the right guidance, lithium orotate could be a valuable tool in your journey to better brain health.

References

If You Are A 23 and Me Customer, You Must Read This

Catherine on April 13, 2025

Recent headlines have left many people wondering: What happens to my genetic data now? Who has access to it? Is it still safe?

If you’ve previously tested your DNA, it’s completely valid to feel concerned about the future of your most personal information.

In this article we will explore the steps you can take with your 23andMe data and something about maximizing its potential etc..

23andMe users who wish to delete and protect their DNA information can take several actionable steps to remove their data from the company’s systems and mitigate risks.

Here’s a clear guide based on the current situation:

How to Delete Your DNA Information from 23andMe

Log Into Your Account
Visit the 23andMe website and sign in with your email and password. This is the first step to access your account settings.
Navigate to Settings
Once logged in, click on your profile name or photo in the top right corner, then select “Settings” from the dropdown menu.
Access 23andMe Data
Scroll down to the “23andMe Data” section and click “View” to see your data management options.
Download Your Data (Optional)
Before deleting, you can download your genetic data for personal records. Under “23andMe Data,” select the option to download your raw genotyping data, ancestry composition, or other reports. You’ll receive an email with a link to download a ZIP file (usually in .txt format). Store this securely if you choose to keep it, as it’s sensitive information.
Delete Your Data
In the same “23andMe Data” section, scroll to “Delete Data” and click “Permanently Delete Data.” You may need to enter your date of birth for verification. After initiating this, 23andMe will send you a confirmation email.
Confirm Deletion
Open the email from 23andMe (check your spam folder if it doesn’t appear promptly) and click the link or button (e.g., “Permanently Delete All Records”) to finalize the deletion. This step is critical—your data won’t be removed until you confirm.
Request Sample Destruction
If you previously opted to have 23andMe store your saliva sample, you can request its destruction. Go to “Settings,” then “Preferences,” and update your preference to discard the sample. This ensures no physical DNA remains with the company.
Revoke Research Consent
If you consented to your data being used for research, withdraw this permission to prevent future use. In “Settings,” go to “Research and Product Consents,” and opt out. This stops your data from being included in new studies, though past research use can’t be undone.

What Happens After Deletion?

Timeline: Deletion begins immediately upon confirmation and may take up to 30 days to fully process.
Data Retention: 23andMe retains some information (e.g., genetic data, birth date, and sex) for legal compliance under federal (CLIA) and California regulations, even after deletion. This retained data is typically de-identified and not linked to your account.
Research Data: If you previously opted into research, data already used in completed studies cannot be retrieved, but it won’t be used moving forward.
Sample: If requested, your saliva sample will be discarded.

Protecting Your DNA Information

Act Quickly: With the company in Chapter 11 proceedings, deleting your data now reduces the chance of it being transferred to a buyer with different privacy standards.
Secure Downloaded Data: If you download your raw DNA file, store it offline (e.g., on an encrypted USB drive) rather than in cloud services, which could be hacked. Avoid uploading it to other genetic sites unless you trust their privacy policies.
Monitor for Breaches: The 2023 breach exposed nearly 7 million users’ data. Sign up for identity theft protection or credit monitoring services to catch misuse, as genetic data can’t be changed like a password.
Leverage Legal Rights: In California, the Genetic Information Privacy Act (GIPA) and California Consumer Privacy Act (CCPA) give you the right to delete your data and have samples destroyed. Other states may lack similar protections, but all users can still request deletion via 23andMe’s process.
Be Cautious with Future Services: If considering other DNA upload siteslike LifeDNA, review their privacy policies. Look for encryption, no history of breaches, and clear data ownership terms.

Are you or do you want to become a LifeDNA Customer?

LifeDNA offers personalized wellness insights with a strong emphasis on data security. LifeDNA focuses on actionable well-being optimizationsin nutrition, fitness, and skincare, derived from raw DNA data uploaded from providers like 23andMe, AncestryDNA, and others. This compatibility allows users to repurpose existing genetic data without submitting new samples, a practical option for those wary of further exposure.

LifeDNA and Data Privacy

LifeDNA distinguishes itself with a proactive stance on privacy. The company boasts partners with CLIA-certified, CAP-accredited, and HIPAA-compliant laboratories, aligning its practices with rigorous standards despite not being bound by HIPAA. Its encrypted servers and SSL-protected transactions reflect a commitment to safeguarding user information.. Additionally, LifeDNA’s investment in research and educational resources empowers users to understand their genetics, fostering trust through transparency.

For those seeking to explore their DNA even further, LifeDNA offers a model that balances utility with security.

Additional Resources

Everything you need to know about DTC genetic testing

References

The Role of Genetic Variations in Mercury Detoxification

Catherine on April 12, 2025

You might want to read: Bacopa Monnieri and Genetics: The Effect on Brain Health

What Is Lithium Orotate?

Benefits of Lithium Orotate

Lithium orotate is believed to offer several benefits, particularly in the areas of mental and emotional health. These include:

Mood stabilization: It may help reduce mood swings and promote emotional balance.
Neuroprotection: Research suggests lithium may protect brain cells and promote the growth of new neural connections.
Reduced anxiety and irritability: Low-dose lithium is thought to help calm the nervous system.
Cognitive support: Some early evidence points to improved memory and learning.

How Lithium Orotate Works in the Body

Genetic Response to Lithium Orotate

Sources of Lithium Orotate

Who Might Benefit from Lithium Orotate?

Lithium orotate may be particularly helpful for individuals experiencing:

Mild mood instability or irritability
Chronic stress or burnout
Low resilience to emotional challenges
Cognitive fog or mental fatigue
A family history of mood disorders

Precautions and Side Effects

Even at low doses, some people may experience side effects, especially with long-term use or if sensitivity is high. These may include:

Nausea or digestive discomfort: Some people report feeling queasy or experiencing mild stomach upset after taking lithium orotate. This may be due to how the body processes lithium or how the supplement is absorbed.
Mild tremors: A fine, involuntary shaking in the hands or fingers can occasionally occur. This is more common with higher doses of lithium but has also been reported in sensitive individuals at lower doses.
Increased thirst or urination: Lithium can affect how the kidneys manage fluids. As a result, you might feel thirstier than usual or notice that you’re urinating more often. This is usually mild but should be monitored.
Brain fog or sluggishness: Some users report feeling mentally dull, tired, or slow in their thinking after taking lithium orotate. This cognitive fatigue may result from how lithium influences brain chemistry in certain individuals.

Personalized Lithium Supplementation

References

The Impact of Pthalates on Your Genes

Catherine on April 11, 2025

Phthalates are everywhere. These chemicals, often added to plastics to make them more flexible and durable, can be found in a wide variety of household products. From food packaging and cosmetics to medical devices and children’s toys, phthalates are ingrained in our everyday lives. However, despite their convenience, phthalates may pose potential risks to human health.

What Are Phthalates?

Phthalates are a group of chemicals primarily used as plasticizers, meaning they make plastic more flexible and durable. These chemicals can be found in everyday products like vinyl flooring, shower curtains, food packaging, perfumes, and even medical devices. They are also used in personal care products such as shampoos, deodorants, and nail polishes.

But what makes phthalates particularly concerning isn’t just their widespread presence. It’s the way they interact with our bodies. Phthalates are considered endocrine disruptors, meaning they interfere with the body’s hormonal systems. This disruption may lead to a variety of health problems, including developmental disorders, fertility issues, and metabolic conditions like obesity and diabetes.

But phthalates’ potential impact doesn’t stop there. They may also influence our genes and how they function, leading to genetic and epigenetic changes that can persist over time.

The Genetics Behind Phthalate Exposure

Phthalates interact with our DNA, potentially altering gene expression. Gene expression refers to the process in which our DNA is used to make proteins, which are crucial for nearly every function in our body. The way our genes are expressed may be influenced by environmental factors like chemicals, and phthalates are important in this process.

The changes phthalates cause don’t always involve changes to the DNA sequence itself. Instead, phthalates can affect how genes are turned on or off. Phthalates can change how our body reads and uses its genetic instructions, and these so called epigenetic changes can have far-reaching consequences.

DNA Methylation

One of the main ways phthalates influence gene expression is through a process called DNA methylation. DNA methylation involves adding a small chemical group (a methyl group) to the DNA molecule. This small change can silence or activate certain genes, essentially turning them on or off.

Recent studies have shown that exposure to phthalates, especially during critical periods of development like pregnancy, can alter DNA methylation patterns. This can lead to genes being turned off or on at inappropriate times, which may contribute to developmental disorders, immune dysfunction, and even cancer.

For example, a study on phthalate exposure during pregnancy found that it caused changes in the methylation of genes related to lung development. These changes were linked to a higher risk of asthma in children born to mothers who had been exposed to phthalates during pregnancy. This is just one example of how small changes in gene expression can have significant consequences for long-term health.

Histones

In addition to DNA methylation, phthalates can also alter histones, proteins that help organize and package DNA in cells. Histones control how tightly DNA is wound, which affects how easily genes can be accessed for reading and transcription. By modifying histones, phthalates can make certain genes more or less accessible, leading to changes in gene expression.

One interesting aspect of phthalate-induced changes in histones is their potential to influence immune function. Phthalates have been shown to affect histone modifications in genes that regulate immune responses, which could make individuals more susceptible to infections or autoimmune diseases. This is another example of how phthalates, by modifying gene expression, can have cascading effects on health.

MicroRNAs

MicroRNAs (miRNAs) are tiny molecules that play a crucial role in regulating gene expression and are important epigenetic regulators in addition to the DNA methylation and histone modifications. These small RNA molecules help determine which genes are expressed and when, acting as messengers that control gene activity. Phthalates have been shown to interfere with the production and activity of miRNAs, which can disrupt normal gene regulation.

Research has found that exposure to phthalates during early development can alter the levels of specific miRNAs in the body. These changes can affect the development of organs like the brain and lungs, and may contribute to diseases like cancer, cardiovascular conditions, and even developmental disorders. The ability of phthalates to impact miRNAs highlights their far-reaching influence on genetic regulation.

Phthalates and the Health of Future Generations

One of the most fascinating but worrisome aspects of phthalate exposure is that the effects don’t just end with the person exposed. The genetic and epigenetic changes caused by phthalates can be passed down to future generations, creating a multigenerational health impact.

For example, one study explored how phthalate exposure in fathers could affect the genetic material passed on to their children. It turns out that exposure to phthalates can alter the germline DNA in sperm, potentially affecting the health of the offspring. This is particularly concerning because the genetic changes may not only affect the individual who was exposed but could also be passed down to their children and even their grandchildren.

Even when the germline DNA sequence may not be affected by phthalates the changes caused by phthalates may be inherited epigenetically. These mechanisms affect , the way genes are expressed (or not expressed) in different types of cells in the body and these changes can be passed down. This adds another layer of complexity to the long-term health effects of phthalates, as the consequences can ripple through generations.

How Phthalates Impact Specific Health Conditions

Phthalates have been linked to a variety of health conditions, many of which involve genetic and epigenetic changes. Below, we’ll take a closer look at some of the key areas where phthalates have been found to play a significant role.

Reproductive Health

Phthalates are notorious for their impact on reproductive health. These chemicals can disrupt hormone levels, affecting both male and female fertility. In men, phthalates can alter the DNA in sperm, which may contribute to infertility or other reproductive issues. In women, phthalates have been linked to altered hormone regulation, which could lead to complications like early menopause or difficulty conceiving.

Interestingly, the effects of phthalates on reproductive health can extend beyond the individual who was exposed. Studies have shown that phthalate exposure in one generation can influence fertility and reproductive health in the next generation, either through genetic changes or epigenetic alterations.

Metabolic Diseases

Phthalate exposure has also been linked to metabolic diseases like obesity and diabetes. These conditions are influenced by a combination of genetic factors and environmental exposures, and phthalates appear to play a role in disrupting metabolic regulation. Changes in gene expression caused by phthalates can alter the way the body processes fat, glucose, and other essential nutrients, leading to an increased risk of metabolic disorders.

Cancer Risk

One of the most concerning implications of phthalate exposure is its potential link to cancer. Some studies have shown that phthalates can interfere with the normal function of genes that control cell growth, potentially leading to cancer. These chemicals can affect both DNA repair mechanisms and the regulation of genes that are involved in controlling the cell cycle, which could increase the likelihood of cancerous cell growth.

Research has specifically linked phthalates to cancers such as breast cancer and liver cancer. By altering gene expression and interfering with normal cellular functions, phthalates may contribute to the development of these diseases. The relationship between phthalates and cancer remains an area of active research, but early findings suggest a concerning connection.

Neurodevelopmental Disorders

Another area where phthalates have a significant impact is neurodevelopment. Phthalates, especially when exposure occurs during pregnancy or early childhood, have been linked to developmental disorders such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). These conditions are influenced by a complex interplay of genetic and environmental factors, and phthalates appear to exacerbate genetic susceptibility to these disorders.

Phthalates can affect the development of the brain by altering gene expression in neural cells, which may affect brain structure and function. Studies have found that phthalates can influence the development of neurotransmitter systems, which are critical for proper brain function. This may contribute to behavioral issues and learning difficulties later in life.

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