MTHFR, an acronym for methylenetetrahydrofolate reductase, refers to an enzyme encoded by the MTHFR gene. This gene is responsible for producing the MTHFR enzyme, which plays a crucial role in the metabolism of folate or vitamin B9 in the body. Folate is essential for numerous bodily functions, including DNA synthesis, repair, and methylation, and it also contributes to the production of red and white blood cells.
A mutation in the MTHFR gene can result in a variant of the MTHFR enzyme, known as a polymorphism, which may affect its efficacy. The most common polymorphisms are labeled as C677T and A1298C, indicating specific changes in the gene's structure. These variations can lead to reduced enzyme activity, impacting the body's ability to convert dietary or synthetic folate into its active form, known as 5-methyltetrahydrofolate (5-MTHF).
Individuals with an MTHFR polymorphism may exhibit elevated homocysteine levels, as reduced enzyme activity can hinder the conversion of homocysteine into methionine. Higher homocysteine levels have been associated with an increased risk of cardiovascular disease, neural tube defects during fetal development, and certain conditions like depression, migraine, and infertility.
Diagnosis of an MTHFR polymorphism typically involves genetic testing to identify the specific variant present in an individual's DNA. Treatment often includes dietary modifications involving the consumption of folate-rich foods or supplements, as well as the use of converted folate supplements like L-methylfolate, bypassing the need for the MTHFR enzyme to convert folate into its active form. However, it is important to consult a healthcare professional for
