Today I’m going to share just a brief introduction about the MTHFR gene and its relationship to infertility. More information will be coming in future posts, so stay tuned!
MTHFR is a gene that provides instructions for making an enzyme called methyenetetrahydrofolate reductase, which plays an important role in chemical reactions involving forms of the vitamin folate (also known as Vitamin B9). Folate is particularly important for fetal development during the first trimester!
Folate deficiency has been linked to difficulties conceiving, unexplained infertility, elevated homocysteine levels, recurrent miscarriages, child with Down Syndrome, development of autism, preeclampsia, postpartum depression (and many other medical and psychiatric symptoms/disorders).
There are two variants of the MTHFR gene that have been identified as problematic: C677T and A1298C. Approximately 25% of the population carry these gene variants (and often have no idea about it!). The impact on your metabolism varies depending on whether you have one (heterozygous) or two (homogyzous) copies of the gene, and whether you carry one of the variants (i.e., you have the C677T type only, the A1298C type only) or a combination of the two types (one C677T + one A1298C).
Fortunately more and more REs (reproductive endocrinologists, also known as fertility docs) are testing for these genes on a more routine basis when you come in for your diagnostic evaluation. If you have not yet been tested (and have had challenges getting pregnant) – consider asking your doctor for this test (it’s checked via a blood test).