A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase

Nature Genetics

Volumn 10, Issue 1, 1995, Pages 111-113

  Frosst, P ^a   Blom, H J ^b   Milos, R ^a   Goyette, P ^a   Sheppard, C A ^c   Matthews, R G ^c   Boers, G J H ^b   Den Heijer, M ^d   Kluijtmans, L A J ^b   van den Heuve, L P ^b   Rozen, R ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF MICHIGAN   (United States)

^d LEYENBURG HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

AMINO ACID SUBSTITUTION; ARTICLE; CORONARY ARTERY DISEASE; ENZYME ACTIVITY; GENE MUTATION; GENETIC MARKER; GENETIC RISK; HOMOCYSTINURIA; HUMAN; METHYLATION; MUTAGENESIS; PRIORITY JOURNAL; RISK FACTOR; VASCULAR DISEASE;

ADULT; AMINE OXIDOREDUCTASES; BASE SEQUENCE; DNA, COMPLEMENTARY; ENZYME STABILITY; ESCHERICHIA COLI; FEMALE; HOMOCYSTEINE; HUMAN; KIDNEY; LIVER; LYMPHOCYTES; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; QUEBEC; RISK FACTORS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; TEMPERATURE; VASCULAR DISEASES;

EID: 0029049553     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0595-111     Document Type: Article

References (17)

1. Boers, G. H. J. et al. Heterozygosity for homocystinuria in premature peripheral and cerebral ocelusive arterial disease. New Engl. J. Mod. 313, 709-715 (1985).
2. Genest, J. J. Jr., et al. Plasma homocysteine levels in men with premature coronary artery disease. J. Am. coll. Cartiiol. 16, 1114-1119 (1990).
3. Clarke, R. et al. Hyperhomocysteinemia: an independent risk factor for vascular disease. New Engl. J. Med. 324, 1149-1155 (1991).
4. Stampfer, M. J. et al. A prospective study of plasma homocysteine and risk of myocardial infarction in US physicians. J. Am. med. Assoc. 268, 877-881 (1992).
5. Kang, S.-S. et al. Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease. Am. J. hum. Genet. 48, 536-645 (1991).
6. Engbersen, A. M. T. et al. Thermolabile 5, 10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinaemia. Am. J. hum. Genet. 56, 142-150 (1995).
7. Selhub, J., Jacques, P. F., Wilson, P. W. F., Rush, D. & Rosenberg, I. H. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. J. Am. med. Assoc. 270, 2693-2698 (1993).
8. Rosenblatt, D. S. in The Metabolic Basis of Inherited Disease (eds Scriver, C. R., Beaudet, A. L, Sly, W. S. & Valle, D.) 2049-2064 (McGraw-Hill, New York, 1989).
9. Kang, S.-S., Passen, E. L., Ruggie, N., Wong, P. W. K. & Sora, H. Thermolabile defect of methytenetetrahydrofolate reductase in coronary artery disease. Circulation 88, 1463-1469 (1993).
10. Goyette, P. et al. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nature Genet. 7, 195-200 (1994).
11. Goyette, P., Frosst, P., Rosenblatt, D. S. & Rozen, R. Seven novel mutations in the methylenetetrahydrofolate reductase gene andgenotype/phenotypecorrelations in severe methylenetetrahydrofolate reductase deficiency. Am. J. hum. Genet. 56, 1052-1059 (1995).
12. Daubner, S. C. & Matthews, R. G. Purification and properties of methylenetetrahydrofolate reductase from pig liver. J. biol. Chem. 257, 140-145 (1982).
13. Davies, J. F. et al. Crystal structures of recombinant human dihydrofolate reductase complexed with folate and 5-deazafolate. J. Biochem. 29, 9467-3479 (1990).
14. Franken, D. G., Boers, G. H. J., Blom, H. J., Trijbels, J. M. F. & Kbppenborg, P. W. C. Treatment of mild hyperhomocysteinemia in vasculardisease patients. Arterioscler. Thromb. 14, 465-470 (1994).
15. Kang, S. S., Zhou, J., Wong, P. W. K., Kowalisyn, J. & Strokosch, G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am. J. hum. Genet. 43, 414-421 (1988).
16. Horton, R. M. et al. Gene splicing by overlap extension. Meth. Enzymol. 217, 270-279 (1993).
17. Rosenblatt, D. S. & Erbe, R. W. Methylenetetrahydrofolate reductase in cultured human cells. I. Growth and metabolic studies. Pediatr. Res. 11, 1137-1141 (1977).