High prevalence of laminopathies among patients with metabolic syndrome

Human Molecular Genetics

Volumn 20, Issue 19, 2011, Pages 3779-3786

  Dutour, Anne ^a,c   Roll, Patrice ^b,d   Gaborit, Bénédicte ^a,c   Courrier, Sébastien ^b   Alessi, Marie Christine ^a,d   Tregouet, David Alexandre ^a   Angelis, Fabien ^b   Robaglia Schlupp, Andrée ^b,d   Lesavre, Nathalie ^c   Cau, Pierre ^b,d   Lévy, Nicolas ^b,d   Badens, Catherine ^b,d   Morange, Pierre Emmanuel ^a,d  

^a INSERM   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c HÔPITAL NORD   (France)

^d TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; LAMIN A; LAMIN B; LAMIN C;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC DISORDER; GROUPS BY AGE; HUMAN; HUMAN CELL; HYPERTRIGLYCERIDEMIA; LAMINOPATHY; LYMPHOBLASTOID CELL; MALE; METABOLIC SYNDROME X; MISSENSE MUTATION; NUCLEAR SHAPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; SCREENING TEST; SKIN FIBROBLAST;

ADULT; COHORT STUDIES; FEMALE; HUMANS; LAMIN TYPE A; MALE; MEMBRANE PROTEINS; METABOLIC SYNDROME X; METALLOENDOPEPTIDASES; MIDDLE AGED; MUTATION, MISSENSE;

EID: 80052693668     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr294     Document Type: Article

References (34)

1. Eckel, R.H., Grundy, S.M. and Zimmet, P.Z. (2005) The metabolic syndrome. Lancet, 365, 1415-1428.
2. Grundy, S.M. (2008) Metabolic syndrome pandemic. Arterioscler. Thromb. Vasc. Biol., 28, 629-636.
3. Vantyghem, M.C., Pigny, P., Maurage, C.A., Rouaix-Emery, N., Stojkovic, T., Cuisset, J.M., Millaire, A., Lascols, O., Vermersch, P., Wemeau, J.L. et al. (2004) Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J. Clin. Endocrinol. Metab., 89, 5337-5346.
4. Navarro, C.L., Cau, P. and Levy, N. (2006) Molecular bases of progeroid syndromes. Hum. Mol. Genet., 15 (Spec no. 2), R151-R161.
5. Worman, H.J. and Bonne, G. (2007) 'Laminopathies': a wide spectrum of human diseases. Exp. Cell Res., 313, 2121-2133.
6. Maraldi, N.M., Capanni, C., Cenni, V., Fini, M. and Lattanzi, G. (2011) Laminopathies and lamin-associated signaling pathways. J. Cell Biochem., 112, 979-992.
7. Agarwal, A.K., Fryns, J.P., Auchus, R.J. and Garg, A. (2003) Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum. Mol. Genet., 12, 1995-2001.
8. Navarro, C.L., De Sandre-Giovannoli, A., Bernard, R., Boccaccio, I., Boyer, A., Genevieve, D., Hadj-Rabia, S., Gaudy-Marqueste, C., Smitt, H.S., Vabres, P. et al. (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum. Mol. Genet., 13, 2493-2503.
9. Marino, G., Ugalde, A.P., Salvador-Montoliu, N., Varela, I., Quiros, P.M., Cadinanos, J., van der Pluijm, I., Freije, J.M. and López-Otín, C. (2008) Premature aging in mice activates a systemic metabolic response involving autophagy induction. Hum. Mol. Genet., 17, 2196-2211.
10. Duesing, K., Charpentier, G., Marre, M., Tichet, J., Hercberg, S., Froguel, P. and Gibson, F. (2008) Evaluating the association of common LMNA variants with type 2 diabetes and quantitative metabolic phenotypes in French Europids. Diabetologia, 51, 76-81.
11. Wegner, L., Andersen, G., Sparso, T., Grarup, N., Glumer, C., Borch-Johnsen, K., Jørgensen, T., Hansen, T. and Pedersen, O. (2007) Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population: studies of 7,495 Danish whites. Diabetes, 56, 694-698.
12. Steinle, N.I., Kazlauskaite, R., Imumorin, I.G., Hsueh, W.C., Pollin, T.I., O'Connell, J.R., Mitchell, B.D. and Shuldiner, A.R. (2004) Variation in the lamin A/C gene: associations with metabolic syndrome. Arterioscler. Thromb. Vasc. Biol., 24, 1708-1713.
13. Hegele, R.A., Cao, H., Harris, S.B., Zinman, B., Hanley, A.J. and Anderson, C.M. (2000) Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. Physiol. Genomics, 3, 39-44.
14. Liang, H., Murase, Y., Katuta, Y., Asano, A., Kobayashi, J. and Mabuchi, H. (2005) Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes. Clin. Endocrinol. (Oxf), 63, 317-322.
15. Murase, Y., Yagi, K., Katsuda, Y., Asano, A., Koizumi, J. and Mabuchi, H. (2002) An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese. Metabolism, 51, 1017-1021.
16. Hegele, R.A., Huff, M.W. and Young, T.K. (2001) Common genomic variation in LMNA modulates indexes of obesity in Inuit. J. Clin. Endocrinol. Metab., 86, 2747-2751.
17. Weyer, C., Wolford, J.K., Hanson, R.L., Foley, J.E., Tataranni, P.A., Bogardus, C. and Pratley, R.E. (2001) Subcutaneous abdominal adipocyte size, a predictor of type 2 diabetes, is linked to chromosome 1q21-q23 and is associated with a common polymorphism in LMNA in Pima Indians. Mol. Genet. Metab., 72, 231-238.
18. Owen, K.R., Groves, C.J., Hanson, R.L., Knowler, W.C., Shuldiner, A.R., Elbein, S.C., Mitchell, B.D., Froguel, P., Ng, M.C., Chan, J.C. et al. (2007) Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. Diabetes, 56, 879-883.
19. Mesa, J.L., Loos, R.J., Franks, P.W., Ong, K.K., Luan, J., O'Rahilly, S., Wareham, N.J., Barroso, I. et al. (2007) Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies. Diabetes, 56, 884-889.
20. Wolford, J.K., Hanson, R.L., Bogardus, C. and Prochazka, M. (2001) Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians. Diabetologia, 44, 779-782.
21. Fontaine-Bisson, B., Alessi, M.C., Saut, N., Fumeron, F., Marre, M., Dutour, A., Badens, C., Levy, N., Tichet, J., Juhan-Vague, I. et al. (2010) Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study. J. Mol. Med., 88, 193-201.
22. Capell, B.C. and Collins, F.S. (2006) Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet., 7, 940-952.
23. Stewart, C.L., Roux, K.J. and Burke, B. (2007) Blurring the boundary: the nuclear envelope extends its reach. Science, 318, 1408-1412.
24. Navarro, C.L., Cadinanos, J., De Sandre-Giovannoli, A., Bernard, R., Courrier, S., Boccaccio, I., Boyer, A., Kleijer, W.J., Wagner, A., Giuliano, F. et al. (2005) Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum. Mol. Genet., 14, 1503-1513.
25. Decaudain, A., Vantyghem, M.C., Guerci, B., Hecart, A.C., Auclair, M., Reznik, Y., Narbonne, H., Ducluzeau, P.H., Donadille, B., Lebbé, C. et al. (2007) New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J. Clin. Endocrinol. Metab., 92, 4835-4844.
26. Markiewicz, E., Venables, R., Mauricio-Alvarez, R., Quinlan, R., Dorobek, M., Hausmanowa-Petrucewicz, I. and Hutchison, C. (2002) Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. J. Struct. Biol., 140, 241-253.
27. Zhang, Q., Bethmann, C., Worth, N.F., Davies, J.D., Wasner, C., Feuer, A., Ragnauth, C.D., Yi, Q., Mellad, J.A., Warren, D.T. et al. (2007) Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum. Mol. Genet., 16, 2816-2833.
28. Pan, H., Richards, A.A., Zhu, X., Joglar, J.A., Yin, H.L. and Garg, V. (2009) A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. Heart Rhythm, 6, 707-710.
29. Ehlermann, P., Lehrke, S., Papavassiliu, T., Meder, B., Borggrefe, M., Katus, H.A. and Schimpf, R. (2011) Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease. Clin. Res. Cardiol., 100, 547-551.
30. Marsman, R.F., Bardai, A., Postma, A.V., Res, J.C., Koopmann, T.T., Beekman, L., van der Wal, A.C., Pinto, Y.M., Lekanne-Deprez, R.H. et al. (2011) A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias and sudden death. Circ. Cardiovasc. Genet., 4, 280-287.
31. Grundy, S.M., Cleeman, J.I., Daniels, S.R., Donato, K.A., Eckel, R.H., Franklin, B.A., Gordon, D.J., Krauss, R.M., Savage, P.J., Smith, S.C. Jr. et al. (2005) Diagnosis and management of the metabolic syndrome: an American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement. Circulation, 112, 2735-2752.
32. Gaudy-Marqueste, C., Roll, P., Esteves-Vieira, V., Weiller, P.J., Grob, J.J., Cau, P., Lévy, N. and De Sandre-Giovannoli, A. (2010) LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. J. Med. Genet., 47, 361-370.
33. Scaffidi, P., Gordon, L. and Misteli, T. (2005) The cell nucleus and aging: tantalizing clues and hopeful promises. PLoS Biol., 3, e395.
34. Estanol, J.M., Agell, N. and Bachs, O. (1997) Nuclear protein patterns in normal T-lymphocytes and lymphoblastoid cells. Cancer Res, 57, 55-61.