The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme is involved in the processing of folate (also known as vitamin B9) in the body.
Key points:
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Genetic Variants: It can have certain common genetic variations (polymorphisms) that may affect its function. Two well-studied variants are C677T and A1298C.
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Methylation Process: It plays a role in the methylation process, which is important for various biochemical reactions in the body, including the conversion of homocysteine to methionine.
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Folate Metabolism: It helps convert folate into its active form, which is necessary for DNA synthesis and repair, and for producing red blood cells.
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Health Implications: Certain MTHFR variants have been associated with altered folate metabolism and increased levels of homocysteine in the blood.
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Potential Health Conditions: Studies suggestd associations between MTHFR variants and conditions such as cardiovascular disease, neural tube defects in pregnancy, and other health issues.
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Prenatal Care: Consider testing for certain MTHFR variants during prenatal care, especially in cases where there is a family history of neural tube defects.
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Supplementation: Individuals with certain MTHFR variants may be advised to take specific forms of folate supplements, such as methylfolate, instead of folic acid.