Role of a common mutation in the homocysteine regulatory enzyme methylenetetrahydrofolate reductase in ischemic stroke

Richard Press, Nancy Beamer, Adam Evans, Thomas Deloughery, Bruce M. Coull

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

A common mutation in methylenetetrahydrofolate reductase (MTHFR), a homocysteine metabolic pathway enzyme, has been associated with increased homocysteine levels and increased risk for premature cardiovascular disease. The purpose of this study was to assess the association between the prevalence of the MTHFR mutation, hyperhomocysteinemia, and subtypes of ischemic stroke in an elderly population comprised of three age-balanced groups of patients. The presence of the C677T MTHFR mutation was determined by a direct polymerase chain reaction-based assay performed on blood samples from 136 patients with acute ischemic stroke, 95 patients with atherosclerotic risk factors for stroke (including some with a history of previous stroke or transient ischemic attack), and 52 healthy control subjects. The prevalence of the homozygous C677T mutation was not significantly higher in the elderly stroke patients (7%) than in the atherosclerotic risk (8%) or healthy elderly control (2%) groups. Plasma homocysteine levels were higher in the acute stroke patient group (14.5 ± 4.5 μmol/L) and atherosclerotic risk patient group (14.6 ± 6.2 μmol/L) compared with the control subjects (10.3 ± 3.1 μmol/L, P <0.03). Homozygotes for the C677T MTHFR mutation did not have significantly higher homocysteine levels than nonhomozygotes. Moderate hyperhomocysteinemia, though common in older patients with ischemic cerebrovascular disease, is not attributable, at least in this patient group, to a higher prevalence of the C677T MTHFR mutation.

Original languageEnglish (US)
Pages (from-to)54-58
Number of pages5
JournalDiagnostic Molecular Pathology
Volume8
Issue number1
DOIs
StatePublished - Mar 1999

Fingerprint

Methylenetetrahydrofolate Reductase (NADPH2)
Homocysteine
Stroke
Mutation
Enzymes
Hyperhomocysteinemia
Cerebrovascular Disorders
Transient Ischemic Attack
Homozygote
Metabolic Networks and Pathways
Healthy Volunteers
Cardiovascular Diseases
Age Groups
Polymerase Chain Reaction
Control Groups

Keywords

  • Cerebrovascular disorders
  • Folate
  • Homocysteine
  • Methylenetetrahydrofolate reductase
  • Mutation
  • Nutrition
  • Risk factors

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Role of a common mutation in the homocysteine regulatory enzyme methylenetetrahydrofolate reductase in ischemic stroke. / Press, Richard; Beamer, Nancy; Evans, Adam; Deloughery, Thomas; Coull, Bruce M.

In: Diagnostic Molecular Pathology, Vol. 8, No. 1, 03.1999, p. 54-58.

Research output: Contribution to journalArticle

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