Discuss the gene variant associated with folate status and its importance to preconceptional women


Some individuals have an increased need for folate due to specific gene variants involved in folate metabolism. These gene variants can impair the conversion of folate to its active form and increase folate requirement. One of the best-studied and most common gene variants affects 5, 10-methylenetetrahydrofolate reductase (MTHFR) activity. This enzyme is responsible for production of the major circulating form of folate used by the body. The C677T allele of the gene that encodes for MTHFR produces an enzyme that has reduced activity. Women with this gene variant are at increased risk of having an NTD-affected newborn.

Nutritional Science

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