Genetic and physiological insights into the metabolic syndrome

American Journal of Physiology - Regulatory Integrative and Comparative Physiology

Volumn 289, Issue 3 58-3, 2005, Pages

  Hegele, Robert A ^a,b   Pollex, Rebecca L ^a  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b NONE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPONECTIN; ANTIRETROVIRUS AGENT; BIOLOGICAL MARKER; C REACTIVE PROTEIN; FATTY ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LAMIN A; LAMIN C; LEPTIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR DELTA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PLASMINOGEN ACTIVATOR INHIBITOR 1; RESISTIN; TRIACYLGLYCEROL;

ABORIGINE; ARTICLE; ATHEROSCLEROSIS; CANADA; CARDIOVASCULAR DISEASE; DYSLIPIDEMIA; FAMILIAL PARTIAL LIPODYSTROPHY; GENE MUTATION; HUMAN; HYPERTENSION; INSULIN RESISTANCE; LIPODYSTROPHY; METABOLIC SYNDROME X; OBESITY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT;

CANADA; HUMANS; INDIANS, NORTH AMERICAN; INUITS; LAMIN TYPE A; LAMINS; LIPODYSTROPHY; METABOLIC SYNDROME X; MUTATION; PPAR GAMMA; PREVALENCE;

EID: 23944501014     PISSN: 03636119     EISSN: None     Source Type: Journal    
DOI: 10.1152/ajpregu.00275.2005     Document Type: Article

References (63)

1. Agarwal AK and Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87: 408-411, 2002.
2. Al-Shali K, Cao H, Knoers N, Hermus AR, Tack CJ, and Hegele RA. A single-base mutation in the peroxisome proliferator-activated receptor γ4 promoter associated with altered in vitro expression and partial lipodystrophy. J Clin Endocrinol Metab 89: 5655-5660, 2004.
3. Alberti KG and Zimmet PZ. Definition, diagnosis and classification of diabetes mellitus and its complications. Part I: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med 15: 539-553, 1998.
4. Anand SS, Yusuf S, Jacobs R, Davis AD, Yi Q, Gerstein H, Montague PA, and Lonn E. Risk factors, atherosclerosis, and cardiovascular disease among Aboriginal people in Canada: the Study of Health Assessment and Risk Evaluation in Aboriginal Peoples (SHARE-AP). Lancet 358: 1147-1153, 2001.
5. Barbaro G. HIV-associated lipodystrophy: pathogenesis and clinical features. Adv Cardiol 40: 97-104, 2003.
6. Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, Maslen GL, Williams TD, Lewis H, Schafer AJ, Chatterjee VK, and O'Rahilly S. Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402: 880-883, 1999.
7. Bays H and Stein EA. Pharmacotherapy for dyslipidaemia-current therapies and future agents. Expert Opin Pharmacother 4: 1901-1938, 2003.
8. Honora E, Kiechl S, Willeit J, Oberhollenzer F, Egger G, Bonadonna RC, and Muggeo M. Metabolic syndrome: epidemiology and more extensive phenotypic description. Cross-sectional data from the Bruneck Study. Int J Obes Relat Metab Disord 27: 1283-1289, 2003.
9. Brown MS and Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 232: 34-47, 1986.
10. Cao H and Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9: 109-112, 2000.
11. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). JAMA 285: 2486-2497, 2001.
12. Ford ES, Giles WH, and Dietz WH. Prevalence of the metabolic syndrome among US adults: findings from the third National Health and Nutrition Examination Survey. JAMA 287: 356-359, 2002.
13. Freimer N and Sabatti C. The human phenome project. Nat Genet 34: 15-21, 2003.
14. Garg A. Lipodystrophics. Am J Med 108: 143-152, 2000.
15. Gary A, Peshock RM, and Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 84: 170-174, 1999.
16. Gerlai R. Phenomics: fiction or the future? Trends Neurosci 25: 506-509, 2002.
17. Guettier JM, Georgopoulos A, Tsai MY, Radha V, Shanthirani S, Deepa R, Gross M, Rao G, and Mohan V. Polymorphisms in the fatty acid-binding protein 2 and apolipoprotein C-III genes are associated with the metabolic syndrome and dyslipidemia in a South Indian population. J Clin Endocrinol Metab 90: 1705-1711, 2005.
18. Harris SB, Gittelsohn J, Hanley A, Barnie A, Wolever TM, Gao J, Logan A, and Zinman H. The prevalence of NIDDM and associated risk factors in native Canadians. Diabetes Care 20: 185-187, 1997.
19. Harris SB, Zinman B, Hanley A, Gittelsohn J, Hegele R, Connelly PW, Shah B, and Hux JE. The impact of diabetes on cardiovascular risk factors and outcomes in a native Canadian population. Diabetes Res Clin Pract 55: 165-173, 2002.
20. Hegele RA. Lamin mutations come of age. Nat Med 9: 644-645, 2003.
21. Hegele RA. Lessons from human mutations in PPARγ. Int J Obes Relat Metab Disord. 29 Suppl 1: S31-S35, 2005.
22. Hegele RA. Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. Trends Endocrinol Metab 14: 371-377, 2003.
23. Hegele RA. Phenomics, lipodystrophy, and the metabolic syndrome. Trends Cardiovasc Med 14: 133-137, 2004.
24. Hegele RA. Premature atherosclerosis associated with monogenic insulin resistance. Circulation 103: 2225-2229, 2001.
25. Hegele RA, Anderson CM, Wang J, Jones DC, and Cao H. Association between nuclear lamin A/C R482Q mutation und partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Res 10: 652-658. 2000.
26. Hegele RA, Cao H, Frankowski C, Mathews ST, and Leff T. PPARG F388L. A transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 51: 3586-3590, 2002.
27. Hegele RA, Cao H, Harris SB, Hanley AJ, and Zinman B. The hepatic nuclear factor-1α G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab 84: 1077-1082, 1999.
28. Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, and Cao H. Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy. Arterioscler Thromb Vasc Biol 23: 111-116, 2003.
29. Hegele RA and Leff T. Unbuckling lipodystrophy from insulin resistance and hypertension. J Clin Invest 114: 163-165, 2004.
30. Juhan-Vague I, Alessi MC, and Morange PE. Hypohbrinolysis and increased PAI-1 are linked to atherothrombosis via insulin resistance and obesity. Ann Med 32, Suppl 1: 78-84, 2000.
31. Kim MH, Kim MK, Choi HY, and Shin YJ. Prevalence of the metabolic syndrome and its association with cardiovascular diseases in Korea. J Korean Med Sci 19: 195-201, 2004.
32. Kobberling J and Dunnigan MG. Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J Med Genet 23: 120-127, 1986.
33. Koenig W. Insulin resistance, heart disease and inflammation. Identifying the "at-risk" patient: the earlier the better? The role of inflammatory markers. Int J Clin Pract Suppl: 23-30, 2002.
34. Kriska AM, Hanley AJ, Harris SB, and Zinman B. Physical activity, physical fitness, and insulin and glucose concentrations in an isolated Native Canadian population experiencing rapid lifestyle change. Diabetes Care 24: 1787-1792, 2001.
35. Laaksonen DE, Lakka HM, Niskanen LK, Kaplan GA, Salonen JT, and Lakka TA. Metabolic syndrome and development of diabetes mellitus: application and validation of recently suggested definitions of the metabolic syndrome in a prospective cohort study. Am J Epidemiol 156: 1070-1077, 2002.
36. Lakka HM, Laaksonen DE, Lakka TA, Niskanen LK, Kumpusalo E, Tuomilehto J, and Salonen JT. The metabolic syndrome and total and cardiovascular disease mortality in middle-aged men. JAMA 288: 2709-2716, 2002.
37. Liese AD, Mayer-Davis EJ, and Haffner SM. Development of the multiple metabolic syndrome: an cpidcmiologic perspective. Epidemiol Rev 20: 157-172, 1998.
38. Miller AR and Etgen GJ. Novel peroxisome proliferator-activated receptor ligands for type 2 diabetes and the metabolic syndrome. Expert Opin Investig Drugs 12: 1489-1500, 2003.
39. Mounkes L, Kozlov S, Burke B, and Stewart CL. The laminopathies: nuclear structure meets disease. Curr Opin Genet Dev 13: 223-230, 2003.
40. Okazawa H, Mori H, Tamori Y, Araki S, Niki T, Masugi J, Kawanishi M, Kubohi T, Shinoda H, and Kasuga M. No coding mutations are detected in the peroxisome proliferator-activated receptor-γ gene in Japanese patients with lipoatrophic diabetes. Diabetes 46: 1904-1906, 1997.
41. Oral EA, Simha V, Ruiz E, Andewelt A, Premkumar A, Snell P, Wagner AJ, DePaoli AM, Reitman ML, Taylor SI, Gorden P, and Garg A. Leptin-replacement therapy for lipodystrophy. N Engl J Med 346: 570-578, 2002.
42. Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, and Garg A. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nat Genet 18: 292-295, 1998.
43. Pollex RL, Hanley AJG, Zinman B, Harris SB, Khan HM, and Hegele RA. Metabolic syndrome in aboriginal Canadians: prevalence and genetic associations. Atherosclerosis. April 30, 2005 [Epub ahead of print].
44. Pollex RL, Hanley AJG, Zinman B, Harris SB, Khan HM, and Hegele RA. Synergism between mutant HNFIA and the metabolic syndrome in Oji-Cree type 2 diabetes. Diabet Med. In press.
45. Pollex RL, Khan HM, Connelly PW, Young TK, and Hegele RA. The metabolic syndrome in Inuit. Diabetes Care 27: 1517-1518, 2004.
46. Razak F, Anand S, Vuksan V, Davis B, Jacobs R, Teo KK, and Yusuf S. Ethnic differences in the relationships between obesity and glucose-metabolic abnormalities: a cross-sectional population-based study. Int J Obes Relat Metab Disord 29: 656-667, 2005.
47. Reaven GM. Pathophysiology of insulin resistance in human disease. Physiol Rev 75: 473-486, 1995.
48. Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe E, Chatterjee VK, and O'Rahilly S. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. Diabetes 52: 910-917, 2003.
49. Schork NJ. Genetics of complex disease: approaches, problems, and solutions. Am J Respir Crit Care Med 156: S103-S109, 1997.
50. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, and Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24: 153-156, 2000.
51. Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, and Bowcock AM. 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 66: 1192-1198, 2000.
52. Spiegelman BM. PPAR-γ: adipogenic regulator and thiaxolidinedione receptor. Diabetes 47: 507-514, 1998.
53. Tan CE, Ma S, Wai D, Chew SK, and Tai ES. Can we apply the National Cholesterol Education Program Adult Treatment Panel definition of the metabolic syndrome to Asians? Diabetes Care 27: 1182-1186, 2004.
54. Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K, Hanley AJ, Zinman B, Harris SH, Barrett PH, and Hegele RA. HNF-1α G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci USA 99: 4614-4619, 2002.
55. Wang J, Burnett JR, Near S, Young K, Zinman B, Hanley AJ, Connelly PW, Harris SB, and Hegele RA. Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol 20: 1983-1989, 2000.
56. Wilson PW and Grundy SM. The metabolic syndrome: practical guide to origins and treatment: part I. Circulation 108: 1422-1424, 2003.
57. Wilson PW and Grundy SM, The metabolic syndrome: a practical guide to origins and treatment: part II. Circulation 108: 1537-1540, 2003.
58. Wolever TM, Hamad S, Gittelsohn J, Gao J, Hanley AJ, Harris SB, and Zinman B. Low dietary fiber and high protein intakes associated with newly diagnosed diabetes in a remote aboriginal community. Am J Clin Nutr 66: 1470-1474, 1997.
59. Young TK. Obesity among aboriginal peoples in North America: epidemiological patterns, risk factors and metabolic consequences. In: Progress in Obesity Research 7, edited by Angel A, Anderson H, Bouchard C, Lau D, Leiter L, and Mendelson R. London: John Libby, 1996, p. 337-342.
60. Young TK, Dean HJ, Flett B, and Wood-Steiman P. Childhood obesity in a population at high risk for type 2 diabetes. J Pediatr 136: 365-369, 2000.
61. Young TK, Moffatt ME, and O'Neil JD. Cardiovascular diseases in a Canadian Arctic population. Am J Public Health 83: 881-887, 1993.
62. Young TK, Reading J, Elias B, and O'Neil JD. Type 2 diabetes mellitus in Canada's first nations: status of an epidemic in progress. Can Med Assoc J 163: 561-566, 2000.
63. Young TK, Schraer CD, Shubnikoff EV, Szathmary EJ, and Nikitin YP. Prevalence of diagnosed diabetes in circuinpolar indigenous populations. Int J Epidemiol 21: 730-736, 1992.