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Methylenetetrahydrofolate reductase (MTHFR) is an enzyme encoded by the MTHFR gene and has significant implications in the field of pharmacogenetics. This enzyme plays a critical role in the folate metabolism pathway, which is integral for processes like DNA synthesis and repair, as well as methylation. Variants of the MTHFR gene are associated with altered enzyme activity, which can, in turn, affect drug efficacy and toxicity.

The MTHFR enzyme catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. The enzyme is crucial for folate metabolism and thus has an indirect role in processes like nucleotide synthesis and DNA methylation.

Two well-studied polymorphisms of the MTHFR gene are C677T (rs1801133) and A1298C (rs1801131). Individuals with these variants may exhibit reduced enzymatic activity, which can lead to elevated levels of homocysteine, potentially resulting in adverse cardiovascular outcomes. These polymorphisms are also implicated in the metabolism of drugs like methotrexate and antifolate antineoplastics, affecting their efficacy and toxicity profiles.

Research is ongoing to further elucidate the role of MTHFR variants in the metabolism of a broader range of drugs. Expanding this knowledge base can contribute to more personalized and efficient therapeutic interventions.

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MTHFR II Polymorphism Kit