Types of MTHFR Mutations

MTHFR MUTATIONS

If you have heard of MTHFR mutations before but didn’t know where to start. This article is for you! It will give you a foundational understanding of biology while introducing you to the types of MTHFR mutations and their overall effect.

​​​​What Are Genes?

What Are Genetic Mutations?

What Are Enzymes and Why Are They So Important?

What Is MTHFR?

How Common are MTHFR  Mutations?

The MTHFR Gene

There are currently a total of 34 mutations in the MTHFR gene.The MTHFR gene sits on Chromosome 1. There are two key variants we test for (as at this stage there is little or no research on the others).

Heterozygous  = 1 copy of the gene from either parentHomozygous  = 1 copy of the gene from each parent

MTHFR C677T Heterozygous = approx. 40% loss of function *MTHFR C677T Homozygous =  approx. 70% loss of function *

MTHFR A1298C Heterozygous = approx. 20% loss of function (research not known)MTHFR A1298C Homozygous  = approx. 40% loss of function **

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function

Consequences Of The MTHFR Mutations On Health And Fertility

Understanding MTHFR Mutations

Take Aways

If you would like to test for the MTHFR gene– click here

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