What is MTHFR?
MTHFR stands for methylenetetrahydrofolate reductase. It is an enzyme that has many roles in the body. In terms of pregnancy, one of the most important things MTHFR does is make folate. Specifically, it methylates* a building-block of folate to form methylated folate, which is the form our body (and your baby) needs. When someone has an MTHFR deletion, it means that the gene on their DNA that is responsible for making the MTHFR enzyme is missing or not functional, so that the building block of folate just builds up and never gets made into the type of folate your body can use. It is a very common issue and one that is easy to test for and to treat.
How common is MTHFR deletion?
There are multiple types of MTHFR variations or deletions. Up to 35% of people may have variations in their MTHFR gene that hamper or prevent their ability to properly methylate folate.
Can an MTHFR deletion affect my ability to get pregnant?
Because a growing baby requires folate to form, having low folate levels in pregnancy has been linked to several issues that may result in miscarriage or failure to implant. In addition, MTHFR deletion disorders have been linked to higher rates of male infertility.
For pregnant moms: How might an MTHFR deletion affect my baby?
Low folate has been linked to several issues called “neural tube defects.” These are relatively rare birth defects that occur in the first 4 weeks of gestation, which is why good folate levels are important for anyone who is trying to get pregnant, not just expecting moms.
What about the folate in my food?
Luckily, even if you have a MTHFR deletion, you can still get some folate from your food, especially from leafy greens, citrus fruits, and organ meats such as liver. However, folate is a heat sensitive molecule and many foods will have less folate in them if they are cooked in certain ways, especially when boiled. In a 2002 study published by the British Journal of Nutrition, 56% of folate was lost in vegetables that were cooked by boiling, while all of the folate was retained when steamed.
What about folic acid supplements?
Unfortunately, folic acid is a form of folate that is not already methylated, so if you are a poor methylator or missing the MTHFR gene, folic acid may build up in your system without ever getting turned into the more useful form. This can actually cause more harm than good. When getting supplements that contain any form of folate, always look for methylfolate, L-methylfolate, 5-MTHF, or L-5-MTHF and avoid anything that contains “folic acid.”
How can I find out if I have an MTHFR deletion?
MTHFR status can be determined under the supervision of a qualified health care practitioner. There are several labs that can test for MTHFR deletions. The test can be done on a blood sample, on saliva, or via an oral swab. Once you know your MTHFR status you can work with your health care provider to make sure that you have all of the essential nutrients you need to increase fertility and protect the health of your child.
* methylation is the adding of a methyl group to a molecule, which often acts like a passcode, giving that substance access to various tissues and processes in the body