Do you have an MTHFR gene mutation? This common genetic variant affects up to 50 percent of the world’s population. MTHFR gene mutations can lead to low levels of B vitamins, which are associated with various health issues, including an increased risk of cardiovascular disease.

A methylenetetrahydrofolate reductase (MTHFR) mutation is a hereditary gene variation that makes it difficult to convert folate and folic acid — both forms of vitamin B9 — into a usable form of energy known as 5-MTHF. Methylation of folate and folic acid is an important process in the body that helps regulate processes such as DNA repair, genetic expression, and detoxification. MTHFR variations can also lead to low levels of glutathione, a powerful antioxidant that helps remove waste products from the body. Without proper methylation and detoxification, toxins and harmful substances can accumulate in the body, contributing to numerous health problems.

Types of MTHFR variants

There are two different MTHFR gene mutations, known as C677T and A1298C. A person can have a combination of these variants, depending on the genes received from each parent. For example, someone who inherits the 677 variation from both parents would have what is known as a homozygous mutation (homo referring to two copies of the same variant). An individual with one variant and one normal gene would have what is known as a heterozygous mutation. One copy of the 677 variant and one copy of the 1298 variant would be known as a compound heterozygous mutation.

Many people with an MTHFR gene mutation experience no symptoms or adverse health consequences. However, some people can experience severely impaired enzymatic function. Only a blood test or DNA test can officially identify a gene mutation.

Symptoms of a MTHFR gene defect can vary significantly from person to person and may include the following:

Extreme fatigue

A folate deficiency can cause issues relating to fatigue. Since an MTHFR gene mutation makes it difficult for the body to use this important nutrient, extreme fatigue is a common symptom. If you feel like you can never get enough sleep, never feel fully awake or alert, or feel exhausted after just light exercise, it could be related to a folate deficiency.

Muscle problems

Lack of coordination, loss of muscle tone or mass, muscle soreness, numbness/tingling in the fingers or toes, and muscle weakness are all potential symptoms of a deficiency in the B complex of vitamins. You might also experience pain or soreness in your joints or muscles, general lack of energy, muscle tremors, or cramps.

Headaches and sensitivity to light

Frequent headaches, migraines, and sensitivity to light are other possible symptoms of a MTHFR gene mutation, as a result of low vitamin B levels. Mental effects such as confusion, forgetfulness, irritability, and mental sluggishness may also occur.

Gastrointestinal problems

Gastrointestinal and digestive problems are common complaints of people with an MTHFR mutation. The gene defect could cause issues such as leaky gut syndrome or exacerbate existing problems within the digestive tract. If you notice frequent problems with your gut health, try consuming fewer inflammatory foods such as processed foods and refined sugars. Increase probiotic foods like yogurt, miso, or tempeh to add good bacteria to your system.

Nausea and vomiting

Unexplained stomach pain, nausea, vomiting, diarrhea, and poor appetite can all point to MTHFR defects. Persistent headache with nausea and vomiting is a common complaint with this gene variant. These symptoms may arise due to a lack of glutathione. Without glutathione, toxins such as heavy metals can accumulate in the body. Accumulation of toxins can also result in more serious internal issues such as liver and kidney dysfunction or failure.

Cardiovascular disease

There is a likely connection between MTHFR gene mutations and cardiovascular disease. Because folic acid helps control blood levels of homocysteine — an amino acid that’s linked to heart disease — individuals with this genotype may have an increased risk of cardiovascular disease. Protect your heart health by eating high-fiber foods, exercising regularly, and managing stress.

Skin problems

Inability to metabolize vitamins and nutrients can also negatively impact the health of your skin. B vitamins are essential for the skin’s ability to retain moisture. If you notice flaky, dry, cracked, or itchy skin that’s difficult to remedy, it might be a symptom of an MTHFR gene mutation. Eczema and dermatitis can also result from this gene mutation. Creams and lotions containing B vitamins can provide moisture and antioxidant support for the skin.

Eye or vision problems

Low levels of B vitamins due to an MTHFR gene mutation can result in eye problems, injuries, and conditions. Ocular abnormalities can occur, including detached retinas and optic nerve damage. Vision loss, burning eyes, gritty eyes, and eye pain could all be signs of these genetic variants.

History of depression or anxiety

The MTHFR mutation can have a negative impact on levels of hormones and neurotransmitters such as serotonin, estrogen, and testosterone — substances that help balance moods and behaviors. People with an MTHFR gene mutation tend to be more prone to certain mental disorders, including depression and anxiety. MTHFR-related disorders can even be as significant as schizophrenia or bipolar disorder. Stress management practices such as meditation and aromatherapy can help combat these symptoms.

Miscarriages and birth defects

One significant outcome of a MTHFR gene variant in women is an increased risk of birth defects and miscarriages. In particular, recurrent, unexplained miscarriages could be an indication of a genetic variant. Scientists speculate that an accumulation of homocysteine in the blood could cause homocysteinemia, an inflammatory condition that may block the flow of nutrients to the fetus, resulting in spontaneous abortion.

Birth defects such as spina bifida and anencephaly (missing or incompletely developed brain or skull) can also arise if the mother has an MTHFR gene mutation. Some studies have also found a possible link between preeclampsia (hypertension during pregnancy) and MTHFR variants. Some doctors may recommend taking anti-blood clotting drugs or supplements to combat these potential effects in pregnancy.

What to do if you think you have an MTHFR gene mutation

You can’t change your genotype, but you can take certain actions to minimize its impact on your health. The following practices may help mitigate any negative effects of MTHFR variants.

  • Boost your gut health. Support a healthy gut by avoiding processed foods and refined sugars. Eat a diet high in fruits and vegetables, as well as fermented foods such as miso, kombucha, sauerkraut, and kefir.
  • Reduce your exposure to environmental toxins. Because an MTHFR variation impairs the body’s ability to eliminate toxins, it’s important to avoid environmental toxins as much as possible. Don’t smoke or spend time in places where smoking is allowed. Avoid beauty products and household cleaners that contain chemicals, as well as plastic food containers and scented candles.
  • Avoid folic acid supplements. Synthetic folic acid cannot be used by individuals with an MTHFR variation, and as a result it can build up in the body and cause toxicity. Avoid multivitamins with folic acid. Many processed foods contain synthetic folic acid, which is another reason to avoid them.
  • Get methylated folate from your diet. Individuals with an MTHFR gene mutation require a form of folate known as L-methylfolate, which can be found in leafy greens, cruciferous vegetables, and berries. Make sure every meal includes foods such as spinach, kale, romaine lettuce, cabbage, asparagus, cauliflower, broccoli, strawberries, and other berries.
  • Avoid anything that can deplete your folate levels. This may include prescription medications such as hormonal birth control, and over-the-counter medications such as antacids.
  • Support your body’s natural detoxification processes by drinking plenty of water and exercising regularly. You may also want to try detoxifying baths and saunas.

Discover your genotype with Vivaliti DNA

Find out your MTHFR genotype by ordering your genetic report from Vivaliti DNA. We analyze 80 different genetic markers to give you a complete picture of how your body responds to different foods, whether you’re at risk of low vitamin B levels, and other factors that will help you meet your health and wellness goals. Order your genetic test today!

Vivaliti DNA is not a diagnostic tool. Genetic testing should not be used as a substitute for treating and diagnosing conditions, or the provision of health care services by a physician or other health care provider.