Genetic Glitches and Folic Acid
By Erica Zelfand

This is Part II of my previous entry on the importance of supplementing folic acid during pregnancy.

Folic acid is one of the B vitamins. It is used by the body to make healthy new cells, balance inflammation, and support the nervous system. For women who may become pregnant, folic acid is especially important for preventing major birth defects like spina bifida. New research is even showing that folic acid supplementation during pregnancy may reduce the risk of autism in children. (Read more about that in yesterday’s blog post)


Can Your Body Use the Folic Acid in Your Supplement?

Unfortunately, many North Americans are affected by a genetic polymorphism that alters the body’s ability to process and utilize folic acid – yes, even the folic acid taken in supplement form. This genetic mutation, commonly referred to as a “methylation defect,” can be tested for through a simple blood test. Known as the MTHFR test, this genetic test is available at through most commercial laboratories and hospitals, as well as through some specialty lab companies.

The MTHFR genetic mutation is associated with higher levels of a cardiovascular inflammatory marker called homocysteine, which may increase the risk of heart disease or blot clot.5  It therefore may be worth it to have the MTHFR test done if anybody in your family has ever had a stroke, blood clot, or heart attack.

There is also some evidence that the MTHFR mutation may increase the risk of ADHD, addictions, fibromyalgia, fatigue, miscarriages, schizophrenia, severe depression, cancer and autism. 6,7,8,9


What to Do if you have the MTHFR Mutation (and can not process folic acid efficiently)

For those who have the mutation, supplementing with folic acid isn’t a bad idea, although it’s difficult to know just how much of the folic acid will actually be used by the body in the face of the MTHFR defect. An easy way to avoid the guessing game is to choose products that contain folate (sometimes listed as 5-MTHF on the label) as opposed to folic acid. Folate is the active form of folic acid, and is more efficiently used in those with the MTHFR defect.

Folate is relatively safe to take even if you don’t have the genetic defect, although it tends to be more expensive than folic acid. (But please, always check with your healthcare provider before starting any new supplements.)
More and more doctors and consumers are demanding products that contain folate, and in turn many supplement companies have begun using folate instead of folic acid in their prenatal supplements, multivitamins, B complexes, and other nutraceuticals.



[5] Homocysteine Studies Collaboration. Homocysteine and risk of ischemic heart disease and stroke: a meta-analysis. JAMA 2002; 288:2015.

[6] Gokcen C, Kocak N, Pekgor A. Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder Int. J. of Med. Sci. 2011; 8(7):523-528.

[7] Victoria L. Stevens, Marjorie L. McCullough, Alexandre L. Pavluck, et al. Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence. Cancer Epidemiol Biomarkers Prev 2007;16:1140-1147.

[8] Boris M, Goldblatt A, Galanko J, James J. Association of MTHFR gene variants with autism. Journal of American Physicians and Surgeons. 2004;9(4):106-108.

[9] Ozdemir O, Yenicesu GI, Silan F, Köksal B, Atik S, Ozen F, Göl M, Cetin A. Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Genet Test Mol Biomarkers. 2012 Apr;16(4):279-86.