MTHFR is a genetic variant or SNP (single nucleotide polymorphism) that can have significant health implications. OF course we all know you can’t change your genes, but thanks to the science of epigenetics, we also know that we can change how those genes express. That means that you can change the health consequences of your genes by modifying factors that are completely within your control such as diet, sleep, lifestyle habits, stress, and toxin exposure.
Always remember, your genes are not your fate and your health is very much up to you. Of course there are factors that you can’t control, such as aging and family history, but by changing the factors that you are able to, you can improve your health now and in the future. Here are some steps you can take to optmize your genes.
Avoid Folic Acid if You Have an MTHFR Mutation (And Moderate If You Don’t)
MTHFR gene mutation is a genetic variance that affects the body’s ability to activate folate or vitamin B9. Folic acid, the synthetic, crystaline form of folate, is commonly added to foods and supplements. However, individuals with MTHFR gene mutation may have difficulty converting folic acid into its active form, which can lead to a buildup of unmetabolized folic acid in the body, and further blocking of the MTHFR enzyme, which essentially pushes folate status lower instead of higher.
High levels of unmetabolized folic acid can have adverse health effects in any person regardless of MTHFR status, including interfering with the body’s natural detoxification processes and boosting the potential for some diseases and negative health outcomes. In fact, even in people without the MTHFR deficiency, taking more than 1000 mcg folic acid daily has been associated with higher risk of cancer and other health outcomes in some research studies.
To avoid these potential health risks, individuals with MTHFR gene mutation should avoid consuming folic acid and instead opt for MTHFR-safe forms of folate including folinic acid, which is found in supplmenets, natural folate from food sources such as beans, lentils, avocados, citrus fruit, and green leafy vegetables, or the active form known as methylfolate, or 5-LMTHF.
Avoiding folic acid can be a challenge because many foods are fortified or enriched with folic acid including wheat products like bread, cereal, pasta, baked goods, and even flour you might use to bake with. It is cause for concern because even for people without the MTHFR gene mutation it is easy to overdose on folic acid between food sources and vitamins and supplements.
If you have MTHFR gene mutation, it’s important to consult with a healthcare provider or a registered dietitian to develop a personalized nutrition plan that meets your needs.
Eat an MTHFR-optimized diet
An MTHFR friendly diet is a clean diet, also known as a whole foods diet, that involves eating minimally processed, nutrient-dense foods that are free from additives, preservatives, folic acid, and artificial ingredients. Eating clean has many health benefits including:
- Improved nutrient intake: Whole, unprocessed foods are packed with essential vitamins, minerals, and nutrients that your body needs to function properly. These foods are nutrient dense and have fewer empty calories.
- Reduced inflammation: Processed foods are often high in sugar, unhealthy fats, and refined carbohydrates, which can contribute to chronic inflammation in the body. A clean diet that is rich in fruits, vegetables, and whole grains, on the other hand, can help to reduce inflammation and promote overall health.
- Better digestion: Processed foods are often high in additives and preservatives that can be difficult for the body to digest. A clean diet that is rich in whole foods can promote healthy digestion and improve gut health.
- Weight management: Consuming a clean diet that is low in processed foods and added sugars or artificial sweetners can help to reduce calorie intake and promote healthy weight management. There are far fewer empty calories, meaning foods that have lots of calories from starches, sugars, and low-quality fats that don’t contribute to your health or nutrition.
- Improved energy and mood: A real food diet can provide your body with the nutrients it needs to function and produce cellular energy effectively, leading to increased energy levels and improved mood.
- Higher natural folate: Natural sources of folate are all whole foods like green leafy vegetables, beans, lentils, nuts, citrus fruit, tropical fruit, and avocados. They are all nutriend-desnse and give your body MTHFR-safe folate as well as other B vitamins and nutrients.
Overall, pursuing a clean diet is the foundation of optimal health and well-being.
Avoid Environmental Toxins
Environmental toxins are chemicals and pollutants that are present in our air, water, food, and everyday surroundings. Exposure to these toxins can have negative health effects and increase the risk of chronic diseases in every person, but it is especially important in people with the MTHFR polymorphism.
MTHFR mutations affect your ability to detoxify certain toxins including heavy metals and hormones or any chemical that mimics hormones, which includes all plastics and many pesticides, herbicides, and industrial chemicals. These toxins are all detoxified through a specific pathway called methylation, which is compromised in people with the MTHFR polymorphism. Because people with the MTHFR polymorphism are less able to safely eliminate these toxins, they are more susceptible to damage from the toxins.
Risks of Enviornmental Toxin Accumulation:
- Health risks: Exposure to environmental toxins has been linked to a wide range of health problems, including cancer, decreased fertility for both men and women, neurological disorders, and respiratory problems.
- Developmental problems: Children and developing fetuses are particularly vulnerable to the harmful effects of environmental toxins, which can lead to developmental problems, birth defects, and lifelong health issues.
- Hormonal disruption: Many environmental toxins, such as phthalates, parabens, and bisphenol A (BPA), are known to disrupt the endocrine system, which can lead to hormonal imbalances and health problems. Endocrine disruptors are largely found in personal care products like lotion, plastics, pesticides, and herbicides.
- Accumulation in the body: Environmental toxins can accumulate in the body over time, leading to a toxic burden that can contribute to chronic health problems. This is especially likely in people who have a lower capacity for detoxifying, such as with MTHFR.
- Impact on the environment: Exposure to environmental toxins not only affects human health but also the health of our planet. Pollutants can contaminate soil, air, and water, leading to ecosystem disruption and harm to wildlife.
To reduce your exposure to environmental toxins, you can take steps such as using natural cleaning products, using natural body care products, avoiding products with synthetic fragrances, filtering your drinking water, and choosing organic produce when possible. Environmental Working Group has a number of databases on water quality in different areas of the US, on safety of personal care products and even on the amount of pesticides found in conventionally grown fruits and vegetables. Find these resources at ewg.org.
It’s also important to advocate for policies that prioritize environmental health and support sustainable practices.
Ensure Proper Supplementation
Proper supplementation can be an effective way to support overall health and fill nutritional gaps in the diet. In an ideal world we would all get 100% of the nutrients we need from our diet, but with a genetic issue such as MTHFR it is much more difficult to do so. However, it’s important to ensure that you are taking supplements properly to maximize their benefits and avoid potential negative side effects. Here are some tips for ensuring proper supplementation:
- Consult with a healthcare professional: Before starting any new supplement regimen, it’s important to consult with a healthcare professional who can help you determine which supplements are right for you and in what doses. If you have a genetic polymorphism such as MTHFR, then be sure to work with someone familiar with that condition who will ensure your specific nutritional needs are met. With MTHFR it is important to take an MTHFR-safe form of folate, ideally 5-LMTHF, although not every person tolerates it. It is also essential to get methyl groups to help optimize your body’s function.
- Choose high-quality supplements: Look for supplements that are made by reputable companies and have been independently tested for purity and potency.
- Read labels carefully: Read food and supplement labels carefully to avoid folic acid and to make sure you are not getting too much of certain nutrients or too little.
- Talk with your Pharmacist about drug interactions: Many prescriptions deplete or block absorption of certain nutrients and will increase your body’s need for that nutrient. Your pharmacist is the best resource for this type of information.
- Take supplements with or away from food as appropriate: Many supplements are better absorbed when taken with or away from food, and that varies depending on the supplement. General guidelines are that vitamins are best taken with food as well as fat-soluble vitamins and nutrients. Amino acids or related supplements like NAC are best taken away from food to optimize absorption. Additionally, taking some supplements, like zinc or B-vitamins on an empty stomach, can cause digestive upset.
- Be consistent: To see the benefits of supplementation, it’s important to take supplements consistently and as directed.
- Don’t rely on supplements alone: While supplements can be a valuable tool for supporting overall health, they should not be relied on as a replacement for a healthy diet and lifestyle.
- By following these tips, you can ensure that you are taking supplements properly and maximizing their potential benefits for your health.
Support Your Detoxification
If you have symptoms of MTHFR gene mutation, it’s important to support your body’s natural detoxification processes to minimize the buildup of toxins and promote optimal health. Here are some ways to detoxify your body if you have MTHFR gene symptoms:
- Eat a clean, whole foods diet: Consuming a diet that is rich in whole, unprocessed foods can help to reduce your exposure to environmental toxins and provide your body with the nutrients it needs to support detoxification.
- Stay hydrated: Drinking plenty of water can help to flush toxins out of your system and support healthy kidney function.
- Avoid toxins: To the extent possible, try to avoid exposure to environmental toxins by choosing organic produce, using natural cleaning products, and filtering your drinking water.
- Supplement with methylfolate: Methylfolate is the active form of folate that is easily absorbed by the body, making it a good choice for individuals with MTHFR gene mutation. By supplementing with methylfolate, you can support your body’s natural detoxification processes.
- Sweat it out: Studies have shown that using a regular heat-therapy like IR sauna or conventional sauna can help to reduce your toxic burden through your sweat.
- Exercise regularly: Regular exercise can help to improve circulation, promote lymphatic drainage, and support healthy liver function, all of which can help to promote detoxification.
- Consider detox-supportive supplements: Certain supplements, such as milk thistle, N-acetylcysteine (NAC), and glutathione, can help to support the body’s natural detoxification processes.
It’s important to work with a healthcare professional or a registered dietitian who is knowledgeable about MTHFR gene mutation to develop a personalized detoxification plan that meets your individual needs.
Avoid Prescription Drugs that Interfere with Folate
If you have MTHFR gene mutation or other conditions that affect folate metabolism, it may be beneficial to avoid prescription drugs that interfere with folate levels, or make sure you are taking adequate MTHFR-safe folate supplements to counteract the effect of the drug. Here’s why:
- Reduced absorption: Some prescription drugs, including methotrexate, can interfere with the absorption of folate in the digestive system, reducing the amount of this important nutrient that is available for use by the body.
- Increased utilization: Some prescription drugs, such as birth control pills and hormone replacement therapy, increase the amount of folate that is used by your body because hormones need folate to be excreted. Because of this, folate supplementation is necessary to allow these drugs to work and also to maintain adequate stores of folate in the body.
- Increased excretion: Some drugs may increase the excretion of folate from the body, further depleting your stores of this essential nutrient.
- Impaired conversion: Some drugs, such as methotrexate and other anti-folates, can impair the conversion of folate to its active form, which is needed for proper function in the body.
- Increased risk of side effects: Taking prescription drugs that interfere with folate levels can increase the risk of side effects and adverse reactions, particularly in individuals with MTHFR gene mutation or other folate-related conditions.
Some examples of prescription drugs that may interfere with folate levels include methotrexate, sulfasalazine, phenytoin, oral contraceptive pills, and hormone replacement therapy. If you are taking any of these medications, it’s important to work closely with your healthcare provider to monitor your folate levels and ensure that you are getting enough of this important nutrient through your diet or supplementation.
In this situation it is extremely important to talk with your healthcare provider because some of these medications are taken specifically for the purpose of lowering folate in the body (for example methotrexate or other anti-folates used in cancer care) and if this is the case then supplementing folate could be detrimental to treatment.
In some cases, your healthcare provider may be able to adjust your medication regimen or prescribe additional folate supplements to help support your overall health and well-being. If you have an MTHFR polymorphism, be sure to talk with your doctor to get an MTHFR-safe supplemental form of folate including folinic acid or 5-LMTHF.
Support Your Gut Health
Your gastrointestinal (GI) tract plays a critical role in your body’s overall health and well-being. Supporting the health of your gut can help to promote better digestion, nutrient absorption, and overall health. Here are some ways to support the gastrointestinal tract:
- Eat a healthy, balanced diet: Eating a diet that is rich in fiber, fruits, and vegetables can help to support the health of the GI tract. This can include foods like beans and pulses, leafy greens, berries, fruit, and nuts. These foods allow your good gut bacteria to thrive and help to keep harmful gut pathogens away.
- Stay hydrated: Drinking plenty of water can help to keep the digestive system functioning properly and prevent constipation.
- Manage stress: Chronic stress changes the neurotransmitters in your brain and body, which in turn changes how your gut functions.Finding ways to manage stress, such as through exercise or meditation, can help to reduce digestive upset and keep your digestion working smoothly.
- Exercise regularly: Regular exercise can help to improve digestive function and promote better overall health.
- Get enough sleep: Adequate sleep is important for maintaining optimal GI function and overall health.
- Consider probiotics: Probiotics are beneficial bacteria that can help to promote better gut health. They can be found in fermented foods like yogurt and sauerkraut, or taken in supplement form. Your gut bacteria are involved in everything from cognitive function and clear thinking to metabolic rate, to allergic response so it is extremely important to keep your bacteria healthy.
- Limit alcohol and caffeine: Consuming too much alcohol or caffeine can irritate the GI tract and disrupt normal digestive function. This is important for other areas of your health as well and especially with an MTHFR polymorphism.
By supporting the health of your GI tract through diet, lifestyle, and targeted supplements, you can promote better digestion, nutrient absorption, and overall health. If you are experiencing persistent GI symptoms, it’s important to speak with your healthcare provider to rule out any underlying conditions or diseases.
Make Moderate Exercise a Part of Your Routine
Moderate exercise is the best practice for people with an MTHFR polymorphism. Exercise has so many beneficial effects on your body including moderating body weight and balancing lean weight to fat ratios, boosting circulation and blood flow, and enhancing hormone balance and heart health. All of these are essential for people with the MTHFR gene mutation and so this is a key part of a healthy MTHFR lifestyle.
With MTHFR it is important to keep in mind that exercise uses methyl groups, and so extreme exercise is not the best course with MTHFR because the MTHFR polymorphism actually limits your ability to make methyl groups. If you are an extreme athlete or a professional athlete, which many MTHFR mutants are, then it is especially important to work with a practitioner who can help you balance your methylation with your physical demands in mind. Extra methyl groups may be needed in supplement form to help your body meet the demands of your lifestyle.
Get Proper Testing
Getting proper testing on an ongoing basis can help you to maintain good health and avoid some of the more serious consequences of improperly cared for MTHFR mutations.Regular testing should include:
- Homocysteine: Elevated blood homocysteine is often a consequence of poorly manged MTHFR, and it is implicated in heart disease, Alzheimer’s disease, and pregnancy loss. Monitoring your homocysteine levels and keeping them in the optimal range are crucial for people with or without the MTHFR gene mutation.
- Annual Well Woman Exam: MTHFR is associated with reduced detoxification of estrogens and so it is important to complete your annual exam each year including breast exam and pap smear.
- Monthly Breast Self Exam: Because of MTHFR’s effect on hormones it is crucial to regularly perform breast self exams to watch for lumps or other early signs of breast cancer. With certain MTHFR variances, chances of breast cancer are slightly increased.
- Vitamin B12 levels: Vitamin B12 is highly tied into the methylation pathway and it is important to monitor levels regularly to ensure you have adequate amounts of this nutrient.
- TSH: TSH, or thyroid stimulating hormone, is a screening test for thyroid function and it should be performed every few years or when symptoms indicate it. Thyroid dysregulation is more common in people with the MTHFR polymorphism.
- Blood pressure: It is important to monitor your blood pressure regularly. At least once per year with your physician and more regularly if you have known blood pressure issues. MTHFR is linked to higher risk of cardiovascular disease and so keeping your blood pressure within normal limits is crucial.
- Folate levels: Folate levels include all forms of folate and so when you first measure they can be misleading because this metric includes folic acid, unmetabolized folic acid (or UMFA), as well as the active forms of folate. Often the first test people take when they find out they have an MTHFR issue shows high folate, for this very reason. Once you have been avoiding folic acid for a few years then it can be considered a more accurate measure of true folate status.
It’s important to work with a healthcare provider who can help determine which tests are appropriate for your individual health needs. Depending on your age, gender, and family history, your healthcare provider may recommend certain tests, such as blood tests, imaging studies, or cancer screenings. By getting proper testing and staying on top of your health, you can take proactive steps to promote better health and well-being.
When you have an MTHFR gene mutation it is incredibly important to optimize your lifestyle so that your chances of having MTHFR-related illness long term are diminished. MTHFR increases the risk for many conditions including cardiovascular disease, various types of cancer, Alzheimer’s disease, Parkinson’s disease, and more day-to-day issues such as anxiety, depression, and chronic fatigue. By optimizing your lifestyle you can reduce your chances of having these illnesses and boost your quality of life long-term.
How does MTHFR gene mutation affect the body’s ability to produce folinic acid?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase, which plays a crucial role in the body’s process of converting folate (a type of B-vitamin) into a usable form called methylfolate. Methylfolate is important for many processes in the body, including the production of DNA and certain neurotransmitters.
A mutation in the MTHFR gene can affect the enzyme’s activity and disrupt the body’s ability to produce enough methylfolate. Specifically, a mutation in the MTHFR gene can cause a decrease in the activity of the enzyme, leading to a condition called MTHFR deficiency.
MTHFR deficiency can result in elevated levels of homocysteine, an amino acid that is normally converted to other substances in the body. Elevated levels of homocysteine have been linked to an increased risk of heart disease, stroke, and other health problems.
Folinic acid is a form of folate that can be used by the body even when the MTHFR enzyme is not functioning properly. However, people with MTHFR mutations may still have difficulty converting folinic acid into the active form of methylfolate.
Overall, a mutation in the MTHFR gene can affect the body’s ability to produce methylfolate, which can have a range of impacts on health depending on the severity of the mutation and other genetic and environmental factors.
Can MTHFR gene mutation lead to folinic acid deficiency?
A mutation in the MTHFR gene can affect the body’s ability to produce enough methylfolate, which is a type of B-vitamin that is important for many processes in the body. Folinic acid is a form of folate that can be used by the body even when the MTHFR enzyme is not functioning properly. However, people with MTHFR mutations may still have difficulty converting folinic acid into the active form of methylfolate.
Therefore, while MTHFR mutations can lead to a deficiency in methylfolate, they do not necessarily cause a deficiency in folinic acid. However, if the body is unable to convert folinic acid to methylfolate effectively, it could lead to a functional deficiency of methylfolate, which can have a range of health impacts depending on the severity of the deficiency and other genetic and environmental factors.
What is the relationship between MTHFR gene mutation and autoimmune disease?
There has been some research suggesting a possible association between MTHFR gene mutations and autoimmune diseases. Autoimmune diseases occur when the immune system mistakenly attacks healthy cells and tissues in the body.
One theory is that MTHFR mutations may affect the body’s ability to regulate the immune system and may contribute to an increased risk of autoimmune diseases. For example, studies have found that people with MTHFR mutations may have higher levels of homocysteine, which has been linked to inflammation and immune dysfunction.
Some studies have also found an increased frequency of MTHFR mutations in people with certain autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus (SLE). However, other studies have not found a significant association between MTHFR mutations and autoimmune diseases.
Overall, while there may be some association between MTHFR mutations and autoimmune diseases, the evidence is not yet conclusive and further research is needed to fully understand the relationship between these factors.
Can MTHFR gene mutation increase the risk of autoimmune disease?
There is some evidence to suggest that MTHFR gene mutations may increase the risk of autoimmune disease. Autoimmune diseases occur when the immune system mistakenly attacks healthy cells and tissues in the body.
Studies have found that people with MTHFR mutations may have higher levels of homocysteine, which has been linked to inflammation and immune dysfunction. In addition, some studies have found an increased frequency of MTHFR mutations in people with certain autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus (SLE).
However, it’s important to note that the relationship between MTHFR mutations and autoimmune disease is complex, and not all studies have found a significant association between the two. Other genetic and environmental factors may also play a role in the development of autoimmune disease.
Overall, while MTHFR mutations may increase the risk of autoimmune disease, further research is needed to fully understand the relationship between these factors.
MTHFR is a common genetic mutation that can contribute to anxiety, depression, fatigue, chronic pain, infertility, and more serious conditions like breast implant illness, heart attack, stroke, chronic fatigue syndrome, and some types of cancer. If you know or suspect you have an MTHFR variant, schedule a free 15-minute meet-and-greet appointment with MTHFR expert Dr. Amy today.Book Your Appointment