The Role of the MTHFR Gene in Physical and Mental Health

March 12, 2015 Updated: March 12, 2015

Scientific researchers are increasing finding causes of a variety of physical and emotional conditions that many people, including physicians, are unaware of, but which can have ripple effects throughout the body.  One such condition is a mutation in the MTHFR gene that impairs the conversion of the homocysteine enzyme into methionine, another enzyme which plays many important roles to ensure our health.  But the main point with a MTHFR gene mutation is that there will be excess homocysteine in the body, which among other possibilities, can increase the risk of cardiovascular disease, stroke, hardening of the arteries, and blood clotting.

There are a number of core symptoms most commonly observed with a MTHFR gene mutation.  Marjie C. Andrejciw, in her article, “MTHFR Gene as Related to Chronic Illness” (Hawthorn University Lecture Series), lists the following symptoms – chronic pain, depression, anxiety, insomnia, sensitivity to chemicals, medication intolerance, weakened immune system, addictions, infertility, and elevated homocysteine levels. 

Mutations in the MTHFR gene can compromise the ability of our body to eliminate toxins and increase oxidative stress, which ultimately results in inflammation and the breakdown of body tissue. The MTHFR gene mutation has been associated with a number of conditions, including autism, ADHD, bipolar disorder, panic attacks, chronic fatigue syndrome, fibromyalgia, autoimmune disorders, migraines, thyroid problems, Irritable Bowel Syndrome, hypertension, schizophrenia, and dementia.  Problems related to pregnancy also have been reported including miscarriages, stillbirths, pre-eclampsia, and neural tube defects. Pre-eclampsia is associated with high blood pressure and organ damage, usually to the kidneys.  For a complete list of conditions associated with the MTHFR gene mutation, refer to 

A deficiency in the MTHFR gene can be found through blood testing.  Many physicians are not familiar with the the MTHFR gene and its risks with mutation.  Treatment often includes taking 5MTHF or methylated folate supplementation in combination with vitamin B2, vitamin B6, and methocobalamin  vitamin B12, all under the supervision of a physician.  Supplements are available containing all of these vitamins.  Supplementation will help to lower homocysteine levels.  Traci Stein, Ph.D. , MPH, in her article, “A Genetic Mutation That Can Affect Mental and Physical Health” (Psychology Today), reported preliminary research suggesting that adequate prenatal intake of folate three months before conception and during the first month of pregnancy can reduce the risk of autism and ADHD.

Diet plays an important role in treatment, especially in terms of consuming folate-rich foods. Some  good sources of folate include dark green leafy greens, asparagus, broccoli,  citrus fruits, beans, peas, and lentils.  Foods fortified with folate should be avoided.  Anti-oxidant rich foods, such as fresh fruits and vegetables, are recommended along with detoxifying foods and teas.  Avocados, artichokes, asparagus, beets, broccoli, cabbage, garlic, and ginger are some good food sources that help with detoxification.  Dandelion, ginger, and green tea are detoxifying to the body.

Additional lab tests should be included when testing for the MTHFR gene.  You want to test for cholesterol levels, food intolerances, the balance of microbes in the gut, and yeast overgrowth, among others. Comprehensive testing seeks as full a picture as possible to guide treatment decisions.  While this material is complex and may require a re-read or two, it is beneficial in the long-run to have a working knowledge of the MTHFR gene and how its mutations can compromise the quality of our lives.  It is believed that up to fifty percent of the population may possess the mutation.  No small number by any means!