What in the world is the MTHFR gene?
Why should I be tested?
For some years now, fertility specialists have known about a relationship between the MTHFR gene, fetal defects and early miscarriage. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that converts folic acid from 5,10-Methylenetetrahydrofolate to 5-Methyltetrahydrofolate, which is the bioactive form of folic acid. This step is then necessary for converting homocysteine to methionine. If certain mutations occur in the MTHFR gene, folic acid production is lacking and homocysteine levels increase in the blood.
So, what does this all mean? Insufficient levels of folic acid may be associated with devastating affects on a developing fetus. Some mutations of the gene have been associated with defects of the brain and spinal cord, including anencephaly and spinabifida. Miscarriage in the first trimester may be a result of defects that are incompatible with life. A single miscarriage, in most cases, is a random event and not necessarily associated with the MTHFR gene. However, if a patient is experiencing recurrent early miscarriage, it is a good idea to evaluate for mutations in the gene.
When certain mutations occur, homocysteine builds up in the blood, and excess levels are excreted in the urine (homocystinuria). Homocystinuria has been linked to a variety of health problems, though the exact reason remains unclear. Some of these conditions include high blood pressure, preeclamsia, stroke, and some forms of cancer. Recently, psychological problems such as depression, bipolar disorder and autism are believed to be linked to MTHFR gene mutations as well, as it may cause decreased levels of certain neurotransmitters.
So, what can be done? In some cases, supplementation with 5-methyltetrahydrofolate may help. In my personal experience, we have observed OB patients with a history of recurrent miscarriage who will have a healthy pregnancy and live birth when started on high doses of folic acid. More research needs to be done to assess the effect on some of these other conditions.
Be sure to talk with your provider if you are having any medical problems you feel may be associated with mutations in the MTHFR gene.
This resource article was written by MaryAnn Shostek for the Center for True Harmony Wellness and Medicine. Please contact us at the 480-539-6646 or info@trueharmonywellness.com so we can assist you with your healthcare.
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