Effect on Folate Metabolism

Riboflavin in the form of FAD is an essential coenzyme for 5,10-methylene tetrahydrofolate reduc-tase, a key enzyme of the folate pathway, which catalyzes the interconversion of 5,10-methylene-tetrahydrofolate and 5-methyltetrahydrofolate. Of the known single nucleotide polymorphisms affecting this enzyme, the best known are the C699T and A1298C variants. The former confer thermolability and potentially reduced enzyme activity in the TT homozygote. Marginal riboflavin status may, in some situations, be associated with increased plasma homocysteine levels (possibly predictive of increased vascular disease risk) that can arise as a result of reduced activity of this key enzyme of folate metabolism in TT subjects. Another example of a common gene polymorphism that affects related pathways is encountered with methionine synthase. These examples of gene-nutrient interactions, which may affect a sizeable proportion of some human populations, illustrate an area of increasing research effort, in which a synergism between a common genetic subtype and a marginal nutrient deficiency or imbalance may confer increased functional risk.

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