How serious is an MTHFR mutation?
An MTHFR gene mutation affects everyone differently, and symptoms can range from barely there to significant, chronic health issues. If you have an MTHFR gene mutation, you can have one abnormal variant (heterozygous) or two (homozygous). The more variations you have, the lower your body’s methylation function will be.
The most common variant in the MTHFR gene is called C677T (5).
- 20 to 40% of individuals in the U.S. have one copy of C677T, which reduces enzyme function to about 65% of normal capacity.
- 8 to 20% of the population has two copies of C677T (one from each parent), which reduces enzyme function to as little as 30% normal capacity.
Another variant called A1298C is found in about 7 to 12% of the North American population and carrying two copies results in 60% of normal enzyme function. In total, approximately 150 million Americans have an MTHFR gene variation.
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Treatments for MTHFR mutation symptoms
Having the MTHFR mutation is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptoms, and optimize your health & longevity.
Enhance detoxification pathways
Reduced methylation contributes to slower detoxification, so it’s important to provide extra support to your body’s natural detox pathways:
- Eat a balanced diet rich in whole-foods, healthy fats, protein, and antioxidants.
- Limit or remove refined sugars.
- Minimize alcohol intake to reduce the demands of detoxification in the liver. If you do decide to drink alcohol, consume in moderation—up to one drink per day for women and two drinks per day for men.
- Promote regular bowel movements by eating plenty of fiber and by staying hydrated. Your gut is your biggest help for natural detoxification.
- Exercise vigorously and regularly, at least 4x per week.
Learn more: Understanding Body Detox
Increase folate and vitamin B12
Methylation depends on folate and B12 to function optimally. Aim for whole-food sources like dark leafy greens, avocado, lentils & beans, and animal proteins.
An MTHFR mutation also makes it more likely you’ll be low in vitamin B12. You can supplement with vitamin B12 or make sure to consume sufficient animal proteins. If you choose to supplement with B12, be sure to look for its active form, methylcobalamin.
…But avoid synthetic B vitamins in supplements
If your supplements contain folic acid or other synthetic forms of B vitamins, switch to a fully methylated product. An MTHFR mutation results in a reduced ability to efficiently convert folic acid to its metabolically usable form. Check with your integrative or functional provider if you need help. You may also benefit from additional supplementation with antioxidants, vitamin D, magnesium, and glutathione precursors like NAC.
Reduce your toxic load
Lessen your body’s toxic burden by reducing your exposure to toxins. Filter the air and water in your home, and prioritize organic foods where possible. Then, avoid exposure to toxins like chemical house cleaners. They can place an added burden on methylation processes and act as endocrine (hormone) disruptors in the body.
Learn more: Supplement Guide | Health Benefits, Dosages, & Facts
Heal a leaky gut and address digestive issues
A healthy gut is critical to optimal health and for managing potential methylation issues.
- Reduce intake of inflammatory foods such as sugar, gluten, refined carbohydrates, and any foods you may have an individual sensitivity to.
- Boost your microbiome health & diversity by eating probiotic foods like kimchi, kefir, yogurt, and kombucha.
- Promote optimal barrier function within the gut with short-chain fatty acids (SCFAs). You can increase SCFA in your gut by consuming foods that increase your body’s production of them, or by taking supplements.
Related: The Incredible Benefits of SCFAs
Prioritize stress management
Stress can not only worsen MTHFR mutation symptoms, but those with an MTHFR mutation can also experience greater levels of perceived stress (6). MTHFR variation can cause an imbalance of neurotransmitters like SAMe, which affects mood. Low levels of SAMe have also been linked to depression and anxiety (7).
If you need help managing stress levels, take a look at these tips to find the most effective methods for your chemistry.
Testing for the MTHFR gene mutation
Genetic testing can determine if an MTHFR mutation is the root cause of your symptoms, and how you can best support your health going forward. If you do have an MTHFR genetic variation, you may also benefit from additional tests to evaluate its effects on your health, such as homocysteine levels, hormone level testing, and gut function analysis.
Having an MTHFR mutation doesn’t automatically mean you will experience the symptoms or health issues outlined above. MTHFR mutation symptoms also depend on which variant of the mutation you have and whether the variations affect both of your MTHFR genes.
Genetic testing can be ordered during any appointment with a CentreSpringMD physician. If you know or suspect you have an MTHFR mutation, work with a provider to form an effective plan for your unique genetics & symptoms.
Resources
- https://pubmed.ncbi.nlm.nih.gov/32722170/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218441/
- https://pubmed.ncbi.nlm.nih.gov/28520345/
- https://www.frontiersin.org/articles/10.3389/fpsyt.2022.976428/full
- https://www.ahajournals.org/doi/10.1161/circulationaha.114.013311
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014759/
- https://www.frontiersin.org/articles/10.3389/fpsyt.2022.821448/full