The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate. Specifically, this enzyme converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
MTHFR is essentially short for Methylenetetrahydrofolate reductase. The MTHFR gene test is a useful and powerful assessment to obtain information from for a variety of health conditions. However, one of the main roles of methylenetetrahydrofolate reductase is simply because it is a key enzyme required to metabolise homocysteine. If you are tested positive for certain mutations such as C677T which is the most common gene that is seen in most people then supplementation may be required for this. Individuals with two copies of this mutation, e.g. one inherited from their mother and one from their father, are called homozygous.
Patients who have homozygous are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate. A second mutation in the MTHFR gene, called A1298C, has also been implicated in high blood levels of homocysteine when found in conjunction with the C677T mutation. The MTHFR gene test at NutriPATH can be measured by blood, blood spot or a buccal swab.