MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is a key enzyme involved in folate metabolism and the regulation of homocysteine levels in the body. This enzyme catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a crucial step in the remethylation of homocysteine to methionine. Methionine serves as a precursor for S-adenosylmethionine (SAM), a methyl donor essential for numerous methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. Variants in the MTHFR gene, particularly the C677T and A1298C polymorphisms, have been associated with altered enzyme activity and folate metabolism. These variants can lead to elevated homocysteine levels and reduced availability of methyl groups for methylation reactions. Dysregulation of MTHFR activity and folate metabolism has been implicated in various health conditions, including cardiovascular disease, neural tube defects, psychiatric disorders, and pregnancy complications. Understanding the role of MTHFR in folate metabolism and its impact on homocysteine levels and methylation processes is crucial for elucidating the mechanisms underlying these health conditions. Genetic testing for MTHFR polymorphisms may provide valuable information for personalized healthcare and guide interventions such as dietary supplementation with folate or other methyl donors. Additionally, ongoing research into the relationship between MTHFR variants and disease risk may lead to the development of novel therapeutic strategies targeting folate metabolism pathways.


Test(s) that measure/test for MTHFR

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