What is MTHFR and the effects of its absence

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that breaks down the amino acid homocysteine. 

The MTHFR gene that codes for this enzyme has the potential to mutate, which can either interfere with the enzyme’s ability to function normally or completely inactivate it.


People have two MTHFR genes, inheriting one from each of their parents. Mutations can affect one (heterozygous) or both (homozygous) of these genes.

There are two common types, or variants, of MTHFR mutations: C677T and A1298C.

These gene mutations are relatively common. In fact, in the United States, around 25% of people of Hispanic descent and 10–15% of people of Caucasian descent have two copies of C677T.

What is MTHFR and the effects of its absence


The mutations can lead to high levels of homocysteine in the blood, which may contribute to several health conditions, including:

birth anomalies;
glaucoma;
certain mental health conditions;

certain types of cancer;


Magnafolate® active folate (L-Methylfolate)—that can be directly absorbed and utilized by human body also sutiful for MTHFR gene people.

Previous:The importance of L-Methylfolate for body Next:The Link Between MTHFR Folate Metabolism Gene and Pregnancy-Induced Hypertension
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