The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase, which plays a role in processing amino acids, specifically homocysteine. Mutations in the MTHFR gene can affect the body’s ability to process homocysteine, leading to high levels of homocysteine in the blood, which may contribute to several health conditions, including birth anomalies, glaucoma, certain mental health conditions, and certain types of cancer. The most common variant in the MTHFR gene is MTHFR C677T, which may also be referred to as MTHFR 677 C>T or MTHFR 677 C→T. Another common gene variant is the MTHFR A1298C variant. These gene variants are relatively common, and most people with MTHFR gene polymorphisms do not have neural tube defects, nor do their children.
Each person has two copies of the MTHFR gene, one from each parent. These are the possible genotypes of the MTHFR gene:
- MTHFR 677 CC (two copies of C, one copy from each parent)
- MTHFR 677 CT (one copy of C from one parent, one copy of T from the other parent)
- MTHFR 677 TT (two copies of T, one copy from each parent)
Having one variant (heterozygous) is less likely to contribute to health issues. Some experts believe that having two mutations (homozygous) may lead to more serious problems. However, existing research has not shown that attempting to intervene in an MTHFR mutation would change the outcome of a pregnancy.
In summary, the MTHFR gene provides instructions for making an enzyme that plays a role in processing amino acids, specifically homocysteine. Mutations in the MTHFR gene can affect the body’s ability to process homocysteine, leading to high levels of homocysteine in the blood, which may contribute to several health conditions. The most common variant in the MTHFR gene is MTHFR C677T, and each person has two copies of the MTHFR gene. Having one variant (heterozygous) is less likely to contribute to health issues, and existing research has not shown that attempting to intervene in an MTHFR mutation would change the outcome of a pregnancy.
