Recently, you might have heard about MTHFR (Methylenetetrahydrofolate reductase), a newly discovered gene mutation responsible for several common, but vague, symptoms.


When we hear the words “gene mutation,” we often think of a major genetic disorder, but that’s not necessarily the case. Gene mutations are relatively common and now that we have mapped out the Human Genome Project, we know a lot more about all of the genes in the body. Therefore, it’s much easier to spot an abnormality when it exists.

You could easily go through your life having the MTHFR gene mutation without realizing it. You could compare it to driving a car with a flat tire: the car is still driveable, it just doesn't drive as well as it could. With MTHFR, many of the body’s processes, such as metabolism, function at suboptimal levels.

Roughly 50% of Americans take vitamins and other dietary supplements, many of which are fortified with folic acid and B12. The synthetic forms of folic acid and vitamin B12 in these products rely on the body to perform the natural methylation process. However, in the case of patients who have the MTHFR gene mutation, the methylated form is required because the body cannot perform the methylation process. Although we have always assumed that people can perform the methylation process in their body, we now know that if you have this MTHFR gene mutation then you lack the enzymes required to convert essential nutrients to their bioactive form. The MTHFR gene mutation causes a deficiency in the enzymes that convert folic acid and Vitamin B12 to its bioactive form. Therefore, your body won’t get enough folic acid or B12.

Vague symptoms, such as anxiety, depression, irritability and brain fog are associated with the MTHFR gene mutation. It can also lead to fibromyalgia and cardiovascular disease. MTHFR is highly relevant to an infertility work-up as well, as couples attempting to conceive may face difficulties getting pregnant. It can also cause recurrent pregnancy loss or chromosomal abnormalities in the developing baby, such as: neural tube defects, preeclampsia, spina bifida, cleft palate, and intrauterine growth retardation (IUGR).

A lab test should be performed to detect if the MTHFR gene mutation is present – just a simple blood draw! If you are having any fertility testing performed, it is a good idea to ask your doctor to order this test.

While all of this sounds really scary, there is good news: MTHFR is easy to correct. In our next blog post we’ll outline the treatments for MTHFR.