MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme that helps the body utilize folate and carry out DNA synthesis and repair. MTHFR mutation is a genetic variation that may result in the impaired function of the MTHFR enzyme, which can affect homocysteine and folate metabolism in the body.
The two common forms of MTHFR mutation are C677T and A1298C. This mutation is common worldwide, but the prevalence may vary among different populations.
MTHFR mutation may lead to difficulty in metabolizing homocysteine and folate properly, which may increase the risk of certain health conditions, such as cardiovascular disease, neural tube defects, cleft lip and palate, and fetal development issues. Additionally, MTHFR mutation may be associated with other conditions such as autism, depression, and Alzheimer’s disease.
During the preconception period, MTHFR mutation may affect the body’s ability to metabolize folate and homocysteine, which may increase the risk of neural tube defects and other developmental issues such as spina bifida and cleft palate. Furthermore, some studies suggest that MTHFR mutation may be associated with infertility and recurrent pregnancy loss.
Therefore, for women with MTHFR mutation or a family history of related conditions, MTHFR genetic testing and supplementation with folate and other vitamins may be crucial during the preconception period.