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MTHFR
Riboflavin (FAD)-dependent enzyme that reduces 5,10-methylene-THF to 5-methyl-THF, committing folate to methionine remethylation rather than thymidylate synthesis.
Also: Methylenetetrahydrofolate reductase
The MTHFR C677T (Ala222Val) variant produces a thermolabile enzyme with reduced activity. TT homozygotes have higher homocysteine and altered folate distribution, especially when folate intake is low; the variant has been studied in relation to neural tube defects, cardiovascular disease, and cancer. The 12th edition treats MTHFR as the canonical nutrigenomics example showing how a common polymorphism modulates response to nutrient intake.
How one textbook covers it
Modern Nutrition in Health and Disease, 12th ed. — Ch 38: Nutritional Genomics
The MTHFR C677T (Ala222Val) variant produces a thermolabile enzyme with reduced activity. TT homozygotes have higher homocysteine and altered folate distribution, especially when folate intake is low; the variant has been studied in relation to neural tube defects, cardiovascular disease, and cancer. The 12th edition treats MTHFR as the canonical nutrigenomics example showing how a common polymorphism modulates response to nutrient intake.
Related terms
Folate, Homocysteine, Nutrigenomics, One-carbon metabolism