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

Diagnostic Molecular Pathology

Volumn 8, Issue 1, 1999, Pages 54-58

  Press, Richard D ^a,c   Beamer, Nancy ^b   Evans, Adam ^a   Deloughery, Thomas G ^a   Coull, Bruce M ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF ARIZONA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

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

Indexed keywords

DNA; HOMOCYSTEINE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE;

ADULT; AGE; AGED; AMINO ACID METABOLISM; ARTICLE; ATHEROSCLEROSIS; CEREBROVASCULAR ACCIDENT; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPERHOMOCYSTEINEMIA; MAJOR CLINICAL STUDY; MALE; NUTRITION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR;

ADULT; AGED; AGED, 80 AND OVER; BRAIN ISCHEMIA; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; RISK FACTORS;

EID: 0033031633     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019606-199903000-00009     Document Type: Article

References (20)

1. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes. JAMA 1995;274:1049-57.
2. Brattstrom L, Lindgren B, Israelsson B, et al. Hyperhomocysteinaemia in stroke: prevalence, cause, and relationships to type of stroke and stroke risk factors. Eur J Clin Invest 1992;22:214-21.
3. Coull BM, Malinow MR, Beamer N, Sexton G, Nordt F, deGarmo P. Elevated plasma homocyst(e)ine concentration as a possible independent risk factor for stroke. Stroke 1990;21:572-6.
4. Deloughery TG, Evans A, Sadeghi A, McWilliams J, Henner WD, Taylor LM, Jr, Press RD. Common mutation in methylenetetrahydrofolate reductase: correlation with homocysteine metabolism and late-onset vascular disease. Circulation 1996;94:3074-8.
5. Faure-Delanef L, Quere I, Chasse JF, et al. Methylenetetrahydrofolate reductase thermolabile variant and human longevity. Am J Hum Genet 1997;60:999-1001.
6. Frosst P, Blom H, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
7. Gallagher PM, Meleady R, Shields DC, et al. Homocysteine and risk of premature coronary heart disease: evidence for a common gene mutation. Circulation 1996;94:2154-8.
8. Graham IM, Daly LE, Refsum HM, et al. Plasma homocysteine as a risk factor for vascular disease: European concerted action project. JAMA 1997;277:1775-81.
9. Jacobsen DW, Gatautis VJ, Green R, et al. Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations in healthy subjects. Clin Chem 1994;40:873-81.
10. Jacques PF, Bostom AG, Williams RR, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996;93:7-9.
11. Kang S-S, Wong PWK, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991;48: 536-45.
12. Kluijtmans LAJ, Kastelein JJP, Lindemans J, et al. Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation 1997;96:2573-7.
13. Ma J, Stampfer MJ, Hennekens CH, et al. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US Physicians. Circulation 1996; 94:2410-6.
14. Markus HS, Ali N, Swaminathan R, Sankaralingam A, Molloy J, Powell J. A common polymorphism in the methylenetetrahydrofolate reductase gene, homocysteine, and ischemic cerebrovascular disease. Stroke 1997;28:1739-43.
15. Nygård O, Vollset SE, Refsum H, et al. Total plasma homocysteine and cardiovascular risk profile: the Hordaland homocysteine study. JAMA 1995;274:1526-33.
16. Perry IJ, Refsum H, Morris RW, Ebrahim SB, Ueland PM, Shaper AG. Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet 1995;346: 1395-8.
17. Sacco RL, Foulkes MA, Mohr JP, Wolf PA, Hier DB, Price TR. Determinants of early recurrence of cerebral infarction: the Stroke Data Bank. Stroke 1989;20:983-9.
18. Selhub J, Jacques PF, Bostom AG, et al. Association between plasma homocysteine concentrations and extracranial carotidartery stenosis. N Engl J Med 1995;332:286-91.
19. Soriente L, Coppola A, Madonna P, et al. Homozygous C677T mutation of the 5,10 methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in Italian patients with a history of early onset ischemic stroke. Stroke 1998;29:869-70.
20. Verhoef P, Kok FJ, Kluijtmans LAJ, et al. The 677C-T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease. Atherosclerosis 1997;132:105-13.