MTHFR: Half the Population Has This Genetic Mutation—Here’s What It Means For Your Health

About 150 million people in the U.S. have a genetic variant that's only just now entering the spotlight for its negative impact on longevity and chronic health issues. This genetic variant is known as an MTHFR mutation, which may lead to low levels of folate and B vitamins, and high levels of homocysteine in the blood.

Over time, the effects of MTHFR gene mutations can put people at higher risk for many common health problems, such as heart disease, stroke, Alzheimer’s disease, and certain cancers (1).

Having an MTHFR genetic variant doesn't necessarily mean you'll have health issues—but there are some dietary and lifestyle changes to be aware of should you discover you do have an MTHFR gene variant.

So how do you know if you have a MTHFR variant and what can you do about it? Let's break down which bodily processes are affected if you have an MTHFR gene mutation, the most common symptoms associated with MTHFR variants, and whether or not you should consider relevant testing.

What is an MTHFR gene mutation?

MTHFR is a gene that provides a blueprint for making an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme takes folic acid from your diet and converts it into a biologically active form—5-MTHF, or 5-methyltetrahydrofolatemethyl-folate.

Methyl-folate drives another larger—and very important—process known as methylation, which controls numerous bodily functions, such as:

  • DNA production
  • Detoxification
  • Hormone metabolism
  • Neurotransmitter function
  • Brain health
  • Digestion
  • Cholesterol levels
  • Inflammation

An MTHFR gene mutation ultimately affects the way your body metabolizes and uses nutrients from your diet to make vitamins, minerals, and proteins your body can use in all its biochemical processes. 

Learn more: The B Vitamins You Need for Cellular Health

Why is methylation so important for your health?

Methylation is a biochemical process that occurs approximately one billion times per second and affects just about every cell, system, and process in the body. Methylation requires activated folate (5-MTHF) to function optimally. 

This activated folate acts as a highly effective and required methyl donor, transferring molecules known as methyl groups to and from different compounds to trigger numerous everyday biological functions.

Activated folate donates a methyl group to the amino acid homocysteine to convert it to another amino acid—methionine. This both prevents the buildup of harmful levels of homocysteine, and allows methionine to go on to form S-adenosylmethionine, or SAM-e.

SAMe then travels around the body regulating the activity of our cardiovascular, neurological, reproductive, and detox systems.

But for those who aren't able to convert folate to its active form, the process of methylation slows down (2). This leads to a buildup of homocysteine in the blood, as well as inflammation. 

Common symptoms of an MTHFR gene mutation

How do you know if you have an MTHFR gene mutation? MTHFR mutations affect everyone differently, and symptoms can vary from long-term health issues to hardly noticeable changes in overall health. Research has shown an association between MTHFR mutations and several health problems including (3):

  • ADHD
  • Adrenal dysfunction
  • Autoimmune disease
  • Cardiovascular disease and high cholesterol (dyslipidemia)
  • Chronic fatigue/ME
  • Colon or other cancers
  • Thyroid problems

Mental health can also be negatively impacted by an MTHFR gene variation because of its role in forming mood-regulating neurotransmitters. You may be more likely to experience depression, anxiety, or other mental health issues like schizophrenia if you have an MTHFR mutation(4).

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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.

Support healthy methylation with Methyl-Plex B.

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.




Holistic Medicine, MTHFR

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