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What is MTHFR?

What is MTHFR? MTHFR is an acronym for methylenetetrahydrofolate reductase, which is a gene that helps the body process the amino acid homocysteine. At birth, you receive 2 MTHFR genes, one from each parent. It is possible to have no mutations, one mutation, or a mutation on both. The two most common variants are the C677T and the A1298C. Research has shown that having one of either or 2 copies of the A1298C poses no health risks. However, those who have two copies of the C677T or one of each mutation are at a heightened risk for health complications.

Now, why is this important to know? Once a genetic mutation occurs, the MTHFR may not be able to properly function leading to elevated or unbalanced homocysteine and low folate levels, which may lead to health complications.

Some conditions that may develop due to MTHFR mutations are:

  • depression

  • anxiety

  • bipolar disorder

  • schizophrenia

  • heart disease

  • blood clots, stroke, or embolism

  • colon cancer

  • acute leukemia

  • chronic pain and fatigue

  • nerve pain

  • migraine

  • multiple miscarriages

  • congenital and developmental disabilities

  • low muscle tone

  • failure to thrive

  • small head circumference

Symptoms of unbalanced homocysteine, folate, and Vitamin B12 deficiency:

  • chronic fatigue

  • shortness of breath

  • general weakness

  • tingling or pain in your hands and feet

  • dizziness

  • mouth sores

  • constipation, loss of appetite, or unexplained weight loss

  • changes in mood

High levels of homocysteine may also be caused by the following:

  • diabetes

  • high cholesterol

  • high blood pressure

  • hypothyroidism

  • obesity

  • certain prescription medications

Some individuals may have the gene mutations and not be aware of it, especially since the symptoms and conditions will vary from person to person.

Having an MTHFR mutation can be especially concerning for women during pregnancy. Mutations to the MTHFR gene have been linked to miscarriages, preeclampsia, and birth defects such as spina bifida and anencephaly.

How do you find out and what can you do about MTHFR mutations? Genetic lab testing is the only way to confirm a diagnosis. Most often supplements will be prescribed to balance the homocysteine and folate levels. There are several natural ways to manage your health with an MTHFR mutation. Most importantly is a proper, well-balanced diet. Implementing folate-rich foods into your diet can help manage low folate levels. Swapping animal-based proteins for plant-based such as beans, lentils, and peas can help. Both, fresh fruit, and vegetables, as well as fresh juice from both, is recommended. Peanut butter and sunflower seeds are also high in folate and can help manage those levels.

Besides a healthy, well-balanced diet, a regular exercise routine and adequate sleep will help your body stay healthy.

If you or someone you know suffers from the above-mentioned conditions or symptoms, please talk to Dr. Lisa about having genetic testing done to identify if an MTHFR mutation is present. Knowing its presence will greatly benefit your health!


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