MTHFR & Methylation

MTHFR Polymorphisms

The methylation pathway is a central biochemical process that impacts all of our cells.  Methylation is the adding a removing of a methyl group (CH3) to amino acids, DNA, and other enzymes or proteins.  Methylation turns on and off genes, maintaining and repairing your DNA. It is important in the nervous system in the production and breakdown of neurotransmitters.  Methylation also controls homocysteine, cholesterol, and other important players in heart disease.    The pathway is involved in regulating hormones such as estrogen, as well as playing a role in histamine levels.

Genetic polymorphisms can change how well a piece of the methylation pathway works.  Knowing where you have genetic roadblocks can help you understand what you need to do to get around those roadblocks in the methylation pathway.

MTHFR is a fairly important genetic variant and one that nutrition can help you work around!  MTHFR, which stands for methylenetetrahydrofolate reductase, codes for an enzyme that turns folate (think leafy greens) into the active form, 5-methyltetrahydrofolate, that your body uses.  This, along with the active form of vitamin B-12  (methylcobalamin) drives an important portion of the methylation cycle. Polymorphisms in the MTHFR gene have been linked to high homocysteine, neural tube defects, spina bifida, heart disease, stroke, preeclampsia, and several psychiatric disorders. [ref]

Check your 23andMe results by clicking the links below for a couple of the more significant MTHFR mutations:

Check your 23andMe results for rs1801133 for the MTHFR C677T:

  • GG: common (wildtype)
  • AG: one copy of C677T allele (heterozygous), MTHFR efficiency reduced by 40%
  • AA: two copies of C677T (homozygous), MTHFR efficiency reduced by 70 – 80%


Check your 23andMe results for rs1801131 for the MTHFR A1298C:

  • TT: common (wildtype)
  • GT: one copy of A1298C allele (heterozygous), MTHFR efficiency reduced
  • GG: two copies of A1298C (homozygous), MTHFR efficiency reduced

What to do about an MTHFR mutation?  First off, start reading!  There is a lot more to the methylation cycle than just the MTHFR gene.  A personal word of caution – don’t just jump into supplementing without reading as much as you can, and also know that the information you find via Facebook comments may be completely wrong.

Foods containing folate include leafy greens, lentils, asparagus, and broccoli.  Note that when you are looking at folate content, you need to make sure it isn’t folic acid (synthetic form in processed foods) if you have methylation cycle polymorphisms.  Here is a more complete list of food sources of folate.

More methylation cycle polymorphisms:


General MTHFR and Methylation cycle information:

Here are several good websites to get started with reading about the MTHFR and other methylation cycle mutations.

A couple of more in-depth sources are:



updated 2/2017

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