Premature atherosclerosis associated with monogenic insulin resistance

Circulation

Volumn 103, Issue 18, 2001, Pages 2225-2229

  Hegele, Robert A ^a  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

Diabetes; Genetics; Obesity; Risk factors

Indexed keywords

ADULT; ARTICLE; ATHEROSCLEROSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY BYPASS GRAFT; DISEASE ASSOCIATION; DYSLIPIDEMIA; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERTENSION; INSULIN RESISTANCE; ISCHEMIC HEART DISEASE; LIPODYSTROPHY; MALE; MONOGENIC DISORDER; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL;

EID: 0035826724     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.103.18.2225     Document Type: Article

References (27)

1. Reaven GM. Pathophysiology of insulin resistance in human disease. Physiol Rev. 1995;75:473-486.
2. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science. 1986;232:34-47.
3. 4S Investigators. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). Lancet. 1994;334:1383-1389.
4. Kobberling J, Dunnigan MG. Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J Med Genet. 1986;23:120-127.
5. Burn J, Baraitser M. Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). J Med Genet. 1986;23:128-130.
6. Garg A, Peshock RM, Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 1999;84:170-174.
7. Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 2000;85:1776-1782.
8. Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000;9:109-112.
9. Hegele RA, Anderson CM, Cao H. Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy. Diabetes Care. 2000;23:258-259.
10. Hegele RA, Anderson CM, Wang J, et al. Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension and diabetes. Genome Res. 2000;10: 652-658.
11. Hegele RA, Cao H, Anderson CM, et al. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab. 2000;85:3431-3435.
12. Despres JP, Lamarche B, Mauriege P, et al. Hyperinsulinemia as an independent risk factor for ischemic heart disease. N Engl J Med. 1996; 334:952-957.
13. Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ. 1991;303:893-896.
14. Kohler HP, Grant PJ. Plasminogen-activator inhibitor type 1 and coronary artery disease. N Engl J Med. 2000;342:1792-1801.
15. Bjornstad PG, Foerster A, Ihlen H. Cardiac findings in generalized lipodystrophy. Acta Paediatr Suppl. 1996;413:39-43.
16. Moller DE, Flier JS. Insulin resistance: mechanisms, syndromes, and implications. N Engl J Med. 1991;325:938-948.
17. Baroni MG, D'Andrea MP, Montali A, et al. A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery disease. Anerioscler Thromb Vasc Biol. 1999;19:2975-2980.
18. Reue K, Xu P, Wang XP, et al. Adipose tissue deficiency, glucose intolerance, and increased atherosclerosis result from mutation in the mouse fatty liver dystrophy (fid) gene. J Lipid Res. 2000;41:1067-1076.
19. Gavrilova O, Marcus-Samuels B, Graham D, et al. Surgical implantation of adipose tissue reverses diabetes in lipoatrophic mice. J Clin Invest. 2000;105:271-278.
20. Shimomura I, Hammer RE, Ikemoto S, et al. Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature. 1999;401:73-76.
21. Shackleton S, Lloyd DJ, Jackson SN, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet. 2000;24:153-156.
22. Speckman RA, Garg A, Du F, et al. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet. 2000;66:1192-1198.
23. Bonne G, DiBarletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285-288.
24. Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease. N Engl J Med. 1999;341:1715-1724.
25. Hegele RA, Cao H, Harris SB, et al. Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. Physiol Genomics. 2000;3:39-44.
26. Rubins HB, Robins SJ, Collins D, et al, Veterans Affairs High-Density Lipoprotein Cholesterol Intervention Trial study group. Gemfibrozil for the secondary prevention of coronary heart disease in men with low levels of high-density lipoprotein cholesterol. N Engl J Med. 1999;341: 410-418.
27. Mintz PJ, Patterson SD, Neuwald AF, et al. Purification and biochemical characterization of interchromatin granule clusters. EMBO J. 1999;18: 4308-4320.