MTHFR: What the folic?

Posted: Oct 31 2018

Confession time.  I am a poor methylator.  There, I’ve said it.  My little secret it out.  I am a part of the population that carries a gene mutation (A MUTANT) affecting MTHFR and as a result I have poor methylation capacity.  I am living with this deficiency and taking it day by day. 

Now that I am done with the melodrama, I am actually living quite well and managing a bunch of risk factors for a number of health conditions by taking supplements with methylated forms of folate or folic acid and B12.

But..  what the folate is MTHFR anyway?

What is MTHFR?

MTHFR – it’s a strange looking acronym, but a very important one. 

Methylenetetrahydrofolate reductase is an enzyme important in converting folate and folic acid to its active form methylenetetrahydrofolate or 5-MTHF. Now before you run away - let’s break down what that means:  Basically, in order to enter the bloodstream folic acid and folate must undergo reduction and conversion to 5-MTHF 1.  5-MTHF functions as a co-enzyme in single carbon transfers in the synthesis of nucleic acids (DNA/RNA) and in the metabolism of amino acids 1.  Folate dependent reactions are required for proper cell division, the most important folate dependent reaction is the conversion of homocysteine to methionine in the synthesis of S-adenosyl-methionine1

Why Should We Care?

5-MTHF is essential for some of the most important physiological reactions in our body.  Decreased levels of 5-MTHF can put you at a higher risk for vascular disease, psychiatric disorders, cancers, heart disease, stroke, cardiovascular disease, Alzheimer’s, hearing loss, macular degeneration, and with respect to pregnancy there is an increased risk of Down’s syndrome and neural tube defects 1

Women with insufficient folate intakes are at increased risk of giving birth to infants with neural tube defects (NTDs). Inadequate maternal folate status has also been associated with low infant birth weight, preterm delivery, and fetal growth retardation 1

What are the Benefits of a Methylated Supplement?

The MTHFR gene tells our bodies how to create this enzyme 2. Unfortunately, this action is affected by a gene mutation in 10-57% of the population3.  This genetic mutation can affect enzyme efficiency by up to 30-70% 4. It seems to make sense, that if you are going to take folic acid, or even B vitamins for that matter, that you would take a methylated version in order to improve the effectiveness of the supplement. 

Genetic testing is available to see if you carry a variant of the MTHFR gene that poses a risk to folate uptake at the cellular level.   Supplementing with methylated B vitamins – 5-MTHF and methylcobalamin (methylated B12) is an important consideration.  There are co-factors which improve the uptake and conversion of folate to 5-MTHF and they include vitamin B2 and B6 and B12.

Find Methylated Folate and B vitamins at

Works Cited

  1. (2018). Office of Dietary Supplements - Dietary Supplement Fact Sheet: Folate. [online] Available at: [Accessed 11 Jul. 2018].


  1. (2018). MTHFR gene variant | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. [online] Available at: [Accessed 11 Jul. 2018].
  1. Hiraoka, M., & Kagawa, Y. (2017). Genetic polymorphisms and folate status. Congenital anomalies, 57(5), 142-149.
  2. Gonzales, M. C., Yu, P., & Shiao, S. P. K. (2017). MTHFR gene polymorphism-mutations and air pollution as risk factors for breast cancer: A meta prediction study. Nursing research, 66(2), 152.

Useful Links

Information On The MTHFR gene:

Information Regarding Methionine:

Information about the MTHFR Gene Variant: