Etiological investigations in apparent type 2 diabetes: When to search for lamin A/C mutations?

Diabetes and Metabolism

Volumn 31, Issue 6, 2005, Pages 527-532

  Donadille, B ^a   Lascols, O ^a,b   Capeau, J ^a,c   Vigouroux, C ^a,c,d  

^a INSERM   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c HÔPITAL TENON   (France)

^d SORBONNE UNIVERSITÉ   (France)

Author keywords

Insulin resistance; Laminopathies; Lipodystrophy; LMNA; Type A lamins

Indexed keywords

LAMIN A; LAMIN C; ROSIGLITAZONE;

ATHEROSCLEROSIS; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; HYPERINSULINEMIA; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; MYALGIA; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; REVIEW;

EID: 29344441009     PISSN: 12623636     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1262-3636(07)70227-6     Document Type: Review

References (34)

1. Gruenbaum Y, Margalit A, Goldman RD, Shumaker DK, Wilson KL. The nuclear lamina comes of age. Nat Rev Mol Cell Biol 2005;6:21-31
2. Vigouroux C, Auclair M, Dubosclard E, et al. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J Cell Sci 2001;114:4459-68
3. Goldman RD, Shumaker DK, Erdos MR, et al. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2004;101:8963-8
4. Lloyd DJ, Trembath RC, Shackleton S. A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum Mol Genet 2002;11:769-77
5. Liu B, Wang J, Chan KM, et al. Genomic instability in laminopathy-based premature aging. Nat Med 2005;11:780-85
6. Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, Chait A. Köbberling type of familial partial lipodystrophy: an underrecognized syndrome. Diabetes Care 2003;26:1819-24
7. Hegele RA. Phenomics, lipodystrophy, and the metabolic syndrome. Trends Cardiovasc Med 2004;14:133-37
8. Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM. Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene. J Clin Endocrinol Metab 2001;86:59-65
9. Araujo-Vilar D, Loidi L, Dominguez F, Cabezas-Cerrato J. Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Horm Metab Res 2003;35:29-35
10. Mazess RB, Barden HS, Bisek JP, Hanson J. Dual-energy x-ray absorptiometry for total-body and regional bone-mineral and soft-tissue composition. Am J Clin Nutr 1990;51:1106-12
11. Garg A, Peshock RM, Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 1999;84:170-4
12. Haque WA, Vuitch F, Garg A. Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. Diabet Med 2002;19:1022-5
13. Haque WA, Shimomura I, Matsuzawa Y, Garg A. Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab 2002;87:2395-98
14. Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, 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 2003;23, 111-6
15. Hegele RA, Cao H, Huff MW, Anderson CM. LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. J Clin Endocrinol Metab 2000;85:3089-93
16. Hegele RA. Premature atherosclerosis associated with monogenic insulin resistance. Circulation 2001;103:2225-9
17. Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 2000;85:1776-82
18. Vigouroux C, Magré J, Vantyghem MC, et al. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 2000;49:1958-62
19. Vantyghem MC, Pigny P, Maurage CA, et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004;89:5337-46
20. Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000;48:170-80
21. Hegele RA, Cao H, Anderson CM, Hramiak IM. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab 2000;85:3431-5
22. Savage DB, Soos MA, Powlson A, et al. Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. Diabetologia 2004;47:753-6
23. Young J, Morbois-Trabut L, Couzinet B, et al. Type A insulin resistance syndrome revealing a novel lamin A mutation. Diabetes 2005;54:1873-8
24. van der Kooi AJ, Bonne G, Eymard B, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002;59:620-3
25. Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med 2002;112:549-55
26. van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med 2005;83:79-83
27. Novelli G, D'Apice MR. The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends Mol Med 2003;9:370-5
28. Navarro CL, De Sandre-Giovannoli A, Bernard R, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;13:2493-503
29. Simha V, Garg A. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 2002;87:776-85
30. Caux F, Dubosclard E, Lascols O, et al. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 2003;88:1006-13
31. Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner's syndrome. Lancet 2003;362:440-5
32. Owen KR, Donohoe M, Ellard S, Hattersley AT. Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med 2003;20:823-7
33. Oral EA, Simha V, Ruiz E, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med 2002;346:570-8
34. Javor ED, Ghany MG, Cochran EK, et al. Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy. Hepatology 2005;41:753-60