MTHFR Genotype Test

Let me begin by putting this MTHFR thing into perspective. There are a few genes in the MTHFR category and you have approximately 30,000 genes. Therefore your MTHFR result is hardly the be-all end-all of your health. If your test results indicate a flaw, who’s to say that one or five other genes are not compensating or completely canceling out the flawed MTHFR? The picture below is a drawing of a portion of all the known metabolic pathways that occur in the body during any millisecond. (Don’t attempt to zoom into the picture to make sense of it because your brain will explode.) You can see that life is not a simple matter and, though each gene makes an important contribution, they enjoy some margin of error.

hugely detailed metabolic pathways

That said, since certain SNPs  have been solidly linked to a wide array of symptoms, MTHFR is a really good thing to look into. (And if you’re running the Nutrient Deficiency test or GenoVive Nutrigenomic test, it’s a no-brainer because MTHFR results are included!)

Also, some who have MTHFR flaws have flaws in other genes in the methlyation pathway that might help explain difficulty resolving symptoms. (See picture below, which is a minuscule version of the preceding pic and has slightly less of a potential to make your brain explode. Click image for downloadable version, or purchase one at Further investigation of your genome might take the form of a 23andme test, which tests for a huge, yet incomplete list of genes.

The nitty gritty

  1. MTHFR flaws prevent your body from activating folate as efficiently as possible, which creates a deficiency.
  2. MTHFR flaws may increase homocysteine (this is more the case with the C677T SNP).

In nittier grit:

1. MTHFR stands for MethylTetraHydraFolateReductase, which is an enzyme that activates folate. Before this enzyme acts on folate, it’s not ready for the body to use. It just floats around like a nerdy ninth grader at a high school dance (ah, the memories). After this enzyme acts on folate, folate becomes methylated and ready for the body to use.

Methylation is when a carbon with two hydrogens attached gets stuck onto another molecule like a Lego piece. It’s a crucial activity the body takes part in trillions of times per second. Without methylation, very little in the body would get accomplished.

2. The fully-functioning MTHFR pathway converts homocysteine to methionine. Whereas methionine is very useful and pretty harmless, homocysteine is inflammatory when it reaches certain levels. Guess when increased homocysteine is an even bigger problem. When folate is low!

Some of the symptoms of an flaw in an MTHFR gene

MTHFR flaws are primarily associated with heart disease & pulmonary embolism. This is specifically because of an increase in homocysteine, which is an inflammatory compound. But other associated conditions include:

  • Severe depression
  • Miscarriage
  • Addiction
  • Fibromyalgia
  • Schizophrenia
  • Colon cancer
  • Autism
  • Dementia
  • High homocysteine (9+ in adult, 6+ in children)
  • High B12 without supplementation or with supplementation with the cyanocobalamin form

What do you do if you have an MTHFR flaw?

If an MTHFR flaw causes the body to be less-than-efficient at activating folate, so what do you do? You take a supplement that contains activated folate! It’s potentially that straight forward. But, variations in your plan might include which SNP your flaw happens to be in (C677T is more highly correlated to health issues than A1298C.) and what else is going on for you. But a supplement geared specifically toward MTHFR is a good first step. I like this one, which includes other nutrients that are supportive of the MTHFR pathway, such as B12 (methylcobalamin or hydroxycobalamin), activated B6 and trimethylglycine.

By the way, folic acid and folate are completely different things. Folic acid is oxidized (and therefore likely toxic), whereas folate is the form the body is willing and able to use. As with many things, $$ talks. Folic acid is cheaper than folate, therefore it is chosen for inclusion in many vitamin supplements. If you are a human, taking folic acid is not recommended, and humans with an MTHFR flaw are especially encouraged to take the activated form. (You’ll see it called methyl folate, Metafolin®, L-5-MTHF and “uncooked leafy greens”). Folinic acid is another form of folate supplement, but when in doubt, choose methylated.

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