Befunctional Labs

The MTHFR gene, technically referred to as Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise homocysteine. Mutations of the MTHFR gene may cause elevated blood levels of homocysteine. The most common mutation in the MTHFR gene is called C677T. Individuals with two copies of this mutation, i.e. one inherited from their mother and one from their father, are called homozygotes. This occurs in 5-10% of the population and these individuals 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.