The MTHFR gene, also known as methylenetetrahydrofolate reductase, plays a central role in folate metabolism and is therefore important for numerous vital processes in the body.
Methylation is a crucial biochemical process that performs numerous functions, including gene regulation, detoxification and cellular function. The MTHFR enzyme provides important building blocks for this process. At the same time, it helps regulate the homocysteine level in the blood. High homocysteine levels have been associated with an increased risk of cardiovascular disease, strokes and other health problems. In addition, methylation influences the production of neurotransmitters such as serotonin, dopamine and noradrenaline, which play an important role in mood and the nervous system.
A test of the MTHFR gene is generally performed to identify genetic variants, known as polymorphisms, that may impair the function of the MTHFR enzyme. The variants C677T and A1298C occur particularly frequently. The C677T variant can reduce enzyme activity by up to 70%, while A1298C affects enzyme function to a lesser extent. However, the combination of both variants may be problematic.
The combination of the two variants, C677T and A1298C, may be problematic because it can impair the function of the MTHFR enzyme more strongly than either variant alone. If both variants are present at the same time, this may significantly reduce enzyme activity, resulting in inefficient conversion of folic acid into its active form. This impairs methylation, which in turn may increase homocysteine levels and adversely affect the production of neurotransmitters and other important processes in the body.
