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This research aims to examine how a mutation in MTHFR affects homocysteine levels, particularly in individuals with varying folate concentrations.

January 1, 1996CirculationOpen Access

Relation Between Folate Status, a Common Mutation in Methylenetetrahydrofolate Reductase, and Plasma Homocysteine Concentrations

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This research aims to examine how a mutation in MTHFR affects homocysteine levels, particularly in individuals with varying folate concentrations.
Screened 365 individuals from the NHLBI Family Heart Study.
Compared fasting plasma homocysteine levels between those with homozygous mutant genotype and normal genotype under low folate conditions.
Analyzed differences in homocysteine levels based on folate status.
Individuals with the homozygous mutant genotype had 24% higher fasting homocysteine levels than those with the normal genotype when plasma folate was low (P<.05).
No significant difference in homocysteine levels between genotypes was observed when plasma folate was adequate (>= 15.4 nmol/L).
Suggests that those with the MTHFR mutation may need more folate to regulate homocysteine levels.

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Randomized trial assesses the interaction between MTHFR mutation and folate on homocysteine in individuals, indicating dietary implications.

Jacques et al. (1996) studied this question.

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Randomized trial assesses the interaction between MTHFR mutation and folate on homocysteine in individuals, indicating dietary implications.