The B vitamin Folic Acid has been touted as the most important vitamin for the proper development of a baby in pregnancy. This is especially true for the first few weeks of pregnancy, when the spinal column is developing. Research shows that folic acid plays a critical role in preventing the neural tube defect, spina bifida. It is considered so important, that the March of Dimes has an entire campaign focused on educating the public about the importance of women in their childbearing years, getting the right amount of this vitamin daily.

What if your body has a genetic defect that makes it extremely difficult for your body to utilize folic acid properly, though? And how would you even know? For 1 in 4 people this is a serious reality and if left undiagnosed, may lead to a variety of pregnancy related issues including difficulties conceiving, unexplained infertility, elevated homocysteine levels, recurrent miscarriages, child with Down Syndrome, development of Autism, preeclampsia, postpartum depression, or even the development of chronic depression.

The Role of MTHFR in Utilizing Folic Acid and Folate

To begin, it is important to know that the MTHFR gene resides in each and every cell in the body. It is responsible for utilizing folic acid and producing the most active form of folate called methylfolate. People with the variant MTHFR C667T have a 40 – 60% decreased ability to produce methylfolate.

Why is Methylfolate so Important?
In the body, methylfolate starts an innumerable amount of critical enzymatic reactions. This impacts the body’s ability to produce a compound known as s-adenosylmethionine, SAMe for short. The body needs SAMe to produce CoQ10, carnitine and creatine, all of which play a critical role in the body’s ability to reproduce, not to mention maintain a variety of other body systems.

MTHFR C677T gene defect contributes to elevated homocysteine levels, which are commonly linked to recurrent miscarriages, as well as the other pregnancy related risks I spoke of previously.

How does MTHFR gene defect cause elevated homocysteine levels?
One by-product of SAMe is homocysteine. Methylfolate and methylcobalamin help to convert harmful homocysteine into the beneficial methionine, which in turn helps to produce SAMe, in a cycle that is never ending, as long at the body is producing methylfolate. In the case of MTHFR gene defect, homocysteine levels may rise to harmful levels due to the impaired ability to produce adequate amounts of methylfolate; impacting your ability to conceive, or harming an otherwise healthy pregnancy.

Other concerns with this wheel are that the body will poorly convert homocysteine to the powerful antioxidant glutathione, which helps protect the body from free radical damage. People with compromised antioxidant levels are more susceptible to oxidative damage due to stress and environmental toxins, thus increasing the risk for toxin build-up. In addition, people with MTHFR gene defect may have lower levels of SAMe, which has been shown to increase the development of depression and postpartum depression. SAMe is also plays an important role in immune system function, growth, repair and maintenance of cells, and is anti-inflammatory. All of these play a role in reproductive function and proper development of a baby in pregnancy.

Testing is Easy!

If you have been struggling to get pregnant, have experienced recurrent miscarriages or any of the other pregnancy related issues I mentioned previously, schedule an appointment with your doctor for a MTHFR genetic test and blood homocysteine level. This should be done before you try to get pregnant again.

Results Matter – Heterozygous or Homozygous?
There are different variations of the MTHFR gene defect. There are people with heterozygous (1 copy of C677T, passed on from one parent) and homozygous (2 copies of C677T, passed on from both parents) MTHFR mutations. Those with homozygous MTHFR C677T are often advised to take their folate requirements more seriously. Homozygous individuals need to avoid synthetic folic acid (see below for more info on this), they require more methylfolate supplementation than heterozygous individuals do, and their blood thinning requirements are greater, especially where a woman’s ability to get pregnant and carry to term is concerned. Before a successful pregnancy can be achieved, these considerations must be addressed.