What Is an MTHFR Gene Mutation?

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An MTHFR gene mutation is an inherited variation of the MTHFR gene, which may lead to pregnancy and birth complications. Nothing can cause your MTHFR gene to mutate. You simply inherit it from your mother and/or father.

This condition is fairly common. In the US, this mutation is found in about 25 percent of people who are Hispanic and about 15 percent of people who are Caucasian. Individuals who are Black seem to be “protected from MTHFR deficiency.”

The best way to treat MTHFR gene mutation is likely methylated-folate supplementation, but everyone’s unique situation may call for different treatment options.

If you’re looking for individualized treatment options for chronic health concerns, schedule an appointment with PrimeHealth today!

What is the MTHFR gene?

All people have the 5-methyltetrahydrofolate gene. It’s also called MTHFR.

The MTHFR gene is responsible for your folate metabolism. MTHFR gene malfunction can result in folate deficiency, which can lead to health complications.

What MTHFR normally does: The MTHFR gene informs your body how to produce the enzyme methylenetetrahydrofolate reductase. This MTHFR enzyme is vital for converting the incative form of folate (called folic acid, or vitamin B9) into the active form, known as folate, 5-MTHF, or methylated folate through  a biochemical pathway.

This conversion of folic acid into folate is critical for the conversion of the amino acid homocysteine into methionine.  If one has a mutation in their MTHFR gene, thus causing their MTHFR enzyme to work less efficiently, there will inevitably be a build up of the amino acid homocysteine in their body, which can cause a whole slew of downstream effects.

MTHFR Genetic Mutation Variations

When the MTHFR gene is mutated, there are 34 various genotypes you can have, such as the common variants called MTHFR C677T and MTHFR A1298C. The MTHFR C677T mutation is more likely to result in problems than the MTHFR A1298C mutation.

Having one gene mutation from one parent (heterozygous) is less likely to result in health problems.

Having two MTHFR gene variants from both parents (homozygous) may lead to increased risk for serious health issues, such as cardiovascular disease.

MTHFR & Pregnancy

MTHFR gene mutations primarily affect pregnancy and birth. This condition may lead to folic acid deficiency, which can result in hyperhomocysteinemia.

Hyperhomocysteinemia is when your homocysteine levels are too high. High homocysteine levels, particularly when combined with low folic acid levels, can lead to pregnancy complications, such as:

  • Preeclampsia
  • Miscarriage
  • Birth defects, such as spina bifida or anencephaly

Low folic acid concentrations alone can be dangerous. Folic acid (with other forms of vitamin B9) is responsible for:

  • Making DNA and other genetic material
  • Repairing DNA
  • Producing red blood cells
  • Dividing cells healthily
  • Growing tissues
  • Detoxification

Further reading: Hypothyroidism & Pregnancy

MTHFR Gene Mutation Signs & Symptoms

Pregnancy and birth complications are the most common symptoms of MTHFR gene mutation.

You may have MTHFR gene mutation if you have any of these risk factors:

  • Mother or father with MTHFR gene mutation
  • Multiple losses of pregnancy
  • History of preeclampsia
  • A child with a neural tube defect, such as anencephaly or spina bifida

Related Health Conditions

Although none of these occur in 100% of cases, MTHFR gene mutation is associated with the following health conditions:

  • Psoriasis
  • Alopecia areata
  • Age-related hearing loss
  • Diabetes mellitus
  • Thrombosis (blood clots)
  • Heart disease
  • Peripheral arterial disease
  • Coronary artery disease
  • Stroke
  • Chronic migraine
  • Schizophrenia
  • Depression
  • Bipolar disorder
  • Autism
  • Parkinson’s disease
  • Cancer (breast, cervical, oral, pancreatic, or stomach)
  • Homocystinuria (including abnormal blood clotting, skeletal abnormalities, eye problems, and learning problems)
  • Impaired detoxification abilities

Pregnant women with a mutated MTHFR gene may experience complications during pregnancy, including:

  • Spina bifida: This birth defect causes nerve damage because the baby’s spinal cord sticks out of their back. Some children with spina bifida live normal lives, while more severe cases require a lot of care.
  • Anencephaly: This birth defect is almost always deadly because the baby is born without parts of their skull or brain.
  • Preeclampsia: This condition means the mother has high blood pressure during her pregnancy.

Testing for MTHFR Mutations

Testing for MTHFR mutations can be costly, and insurance does not often cover diagnostics. Healthcare professionals do not usually test pregnant women for this mutation.

However, your doctor may test for MTHFR mutation in these cases:

  • If you’ve experienced multiple miscarriages
  • If there is a family history of MTHFR gene mutation
  • If you dealt with genetic issues during a previous pregnancy
  • If you have a health condition related to toxicity from heavy metals, mycotoxins, or other toxins.

These tests often look for low folate levels, elevated levels of homocysteine, or certain gene variation combinations.

Alternatively, you could try a less precise but more accessible at-home MTHFR mutation genetic testing, such as Empower DX’s genomic test. Genetic tests can identify if you have an MTHFR gene mutation or another genetic SNP (single nucleotide polymorphism) variation.

Most test results are ready in 1-2 weeks.

Treatment Options

MTHFR gene mutation cannot be reversed, but the adverse effects of the mutation can be negated with medication, supplements, or diet and lifestyle changes.


  • Heparin or lovenox injections may prevent blood clots from forming between the placenta and the uterine wall during pregnancy. Remember, abnormal blood clotting is a common symptom of MTHFR mutation.
  • Aspirin may also prevent unwanted blood clots.

You may also need to stop using certain medications which could be worsening your MTHFR mutation symptoms, such as atorvastatin, fenofibrate, methotrexate, and nicotinic acid.

Medication is not PrimeHealth’s first recommendation, but your healthcare provider may rely on pharmaceuticals to treat your MTHFR mutation symptoms.


  • Folate, also known as 5-MTHF or methylated folate, is the most common recommendation from healthcare professionals for MTHFR gene mutation, especially for women who are pregnant or looking to become pregnant.
  • The CDC recommends supplementing 400 micrograms of folic acid every day. Folic acid is not the same as folate, which is the methylated or activated form of folic acid. It’s very important for people with an MTHFR mutation to take folate and not folic acid.
  • Prenatal vitamins with L-methylfolate may decrease risk of anemia in pregnant women.
  • Multivitamins that include vitamin B9 and vitamin B12 might benefit those with methylenetetrahydrofolate reductase gene mutations since low levels of different B vitamins are associated with the mutation.


You can make dietary changes to treat the effects of MTHFR gene mutation. Eating more folate-containing foods is the best change you can make to your diet.

Sources of dietary folate:

  • Leafy greens: spinach, kale, turnip greens, arugula, Brussels sprouts, etc.
  • Asparagus
  • Legumes: lentils, beans, peanuts, etc.
  • Nuts
  • Seeds
  • Fresh citrus
  • Fruit juice
  • Bananas
  • Beets
  • Liver
  • Seafood
  • Eggs
  • Avocados

Lifestyle Changes

Lifestyle changes to treat MTHFR mutation symptoms include:

  • Exercise regularly
  • Stop smoking
  • Maintain a healthy weight
  • Detox regularly (ie: drink filtered water, have daily bowel movements, use a sauna, epsom salt baths, or dry brushing)

Final Thoughts

If inherited, MTHFR gene mutation is unavoidable. If you have it, you have it. It’s genetic, and nothing else can cause it. This mutation can cause pregnancy and birth complications. However, these complications may be avoided with targeted treatment and supplementation.

Don’t be discouraged. Just because you can’t “undo” the mutation doesn’t mean you’re hopeless. There are ways to combat the effects of MTHFR gene mutation, namely supplementing with folate.

If you want a more individualized approach to your treatment, schedule an appointment with PrimeHealth in Denver, Colorado. We are an integrative health clinic and use science-backed treatments catered to your unique situation.


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