Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations

P. F. Jacques, A. G. Bostom, R. R. Williams, R. C. Ellison, J. H. Eckfeldt, I. H. Rosenberg, J. Selhub, R. Rozen

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1234 Scopus citations

Abstract

Background: Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5- methyltetrahydrofolate, the major carbon donor in remethylation of homocysteine to methionine. A common MTHFR mutation, an alanine-to-valine substitution, renders the enzyme thermolabile and may cause elevated plasma levels of the amino acid homocysteine. Methods and Results: To assess the potential interaction between this mutation and vitamin coenzymes in homocysteine metabolism, we screened 365 individuals from the NHLBI Family Heart Study. Among individuals with lower plasma folate concentrations (< 15.4 nmol/L), those with the homozygous mutant genotype had total fasting homocysteine levels that were 24% greater (P<.05) than individuals with the normal genotype. A difference between genotypes was not seen among individuals with folate levels ≥ 15.4 nmol/L. Conclusions: Individuals with thermolabile MTHFR may have a higher folate requirement for regulation of plasma homocysteine concentrations; folate supplementation may be necessary to prevent fasting hyperhomocysteinemia in such persons.

Original languageEnglish (US)
Pages (from-to)7-9
Number of pages3
JournalCirculation
Volume93
Issue number1
DOIs
StatePublished - 1996

Keywords

  • amino acids
  • enzymes
  • genetics
  • homocysteine
  • metabolism

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