MTHFR & Methylation

MTHFR Polymorphisms

The methylation pathway is a central biochemical process that impacts all of our cells.  Methylation is the adding and 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, as well as altering proteins. It is important in the nervous system in the production and breakdown of neurotransmitters.

The methylation cycle is involved with homocysteine, cholesterol, and other important players in heart disease, and genetic variants in the methylation pathway have been linked to heart disease. Additionally, the pathway is involved in regulating hormones such as estrogen, as well as playing a role in histamine levels.

Genetic variants can change how well a piece of the methylation pathway works.  Knowing where you have genetic variations can help you understand what you need to do to get around the slow-downs in the methylation pathway.

MTHFR is a genetic variant involved in the methylation cycle 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.

Variations in the MTHFR gene have been linked to an increased risk of higher homocysteine, neural tube defects, spina bifida, heart disease, stroke, preeclampsia, and several psychiatric disorders. [ref]  There is a lot of swirl on the internet about MTHFR with people thinking it is the cause of everything under the sun.  This seems to have caused a bit of a backlash with doctors claiming that MTHFR variants are completely unimportant.  The very extensive research shows, though, that MTHFR variants are linked to an increased risk for the disorders listed above.  Thus, optimizing your methylation cycle can be important to your overall health, but probably isn’t the smoking gun for every ailment under the sun.

It is easy to check your 23andMe results for the two main MTHFR variants:

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


Lifestyle and diet:
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.

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 variations.  Here is a good list of food sources of folate.

If you aren’t getting enough folate from foods, you could try a low-dose methyl folate supplement.  

Go and get your homocysteine level checked.  High homocysteine levels have been linked to risk of heart disease, and methyl folate plus B12 may help reduce your homocysteine.   In the US, you can order this online without a trip to the doctor through Walk-In Labs or other testing providers.

More methylation cycle variants:

General MTHFR and Methylation cycle information:

updated 12/2017

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