LMNA-linked lipodystrophies: From altered fat distribution to cellular alterations

Biochemical Society Transactions

Volumn 39, Issue 6, 2011, Pages 1752-1757

  Bidault, Guillaume ^a,b   Vatier, Camille ^a,b   Capeau, Jacqueline ^a,b,c   Vigouroux, Corinne ^a,b,c   Béréziat, Véronique ^a,b  

^a SORBONNE UNIVERSITÉ   (France)

^b CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^c HÔPITAL TENON   (France)

Author keywords

Insulin resistance; Lamin A C; Metabolic alteration; Partial lipodystrophy; Prelamin A

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INSULIN; LAMIN A; LAMIN C; METFORMIN; MITOGEN ACTIVATED PROTEIN KINASE; OMEGA 3 FATTY ACID; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA AGONIST; PROTEIN C FOS; RECOMBINANT LEPTIN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1;

BODY FAT DISTRIBUTION; CELL DISRUPTION; CONFERENCE PAPER; DIET THERAPY; DYSPLASIA; FAMILIAL PARTIAL LIPODYSTROPHY; GENE EXPRESSION; GENE MUTATION; GLYCEMIC CONTROL; HUMAN; HYPERCHOLESTEROLEMIA; INSULIN RESISTANCE; JAW MALFORMATION; LIFESTYLE MODIFICATION; LIPODYSTROPHY; LOW DRUG DOSE; MANDIBULOACRAL DYSPLASIA; METABOLIC DISORDER; NONHUMAN; PATHOPHYSIOLOGY; PHYSICAL ACTIVITY; PRIORITY JOURNAL; PROGERIA; PROTEIN FUNCTION; PROTEIN STRUCTURE; SIGNAL TRANSDUCTION;

ADIPOSITY; HUMANS; INSULIN RESISTANCE; LAMIN TYPE A; LIPODYSTROPHY; NUCLEAR PROTEINS; PROTEIN PRECURSORS; SIGNAL TRANSDUCTION;

EID: 81855212443     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20110675     Document Type: Conference Paper

References (49)

1. Vigouroux, C., Caron-Debarle, M., Le Dour, C., Magré, J. and Capeau, J. (2011) Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity. Int. J. Biochem. Cell. Biol. 43, 862-876
2. Herrmann, H., Bar, H., Kreplak, L., Strelkov, S.V. and Aebi, U. (2007) Intermediate filaments: from cell architecture to nanomechanics. Nat. Rev. Mol. Cell. Biol. 8, 562-573 (Pubitemid 46985377)
3. Wilson, K.L. and Foisner, R. (2010) Lamin-binding proteins. Cold Spring Harbor Perspect. Biol. 2, a000554
4. Andres, V. and Gonzalez, J.M. (2009) Role of A-type lamins in signaling, transcription, and chromatin organization. J. Cell Biol. 187, 945-957
5. Stierlé, V., Couprie, J., Ostlund, C., Krimm, I., Zinn-Justin, S., Hossenlopp, P., Worman, H.J., Courvalin, J.C. and Duband-Goulet, I. (2003) The carboxyl-terminal region common to lamins A and C contains a DNA binding domain. Biochemistry 42, 4819-4828 (Pubitemid 36532033)
6. Liu, B., Wang, J., Chan, K.M., Tjia, W.M., Deng, W., Guan, X., Huang, J.D., Li, K.M., Chau, P.Y., Chen, D.J. et al. (2005) Genomic instability in laminopathy-based premature aging. Nat. Med. 11, 780-785 (Pubitemid 41021211)
7. Worman, H.J. and Bonne, G. (2007) "Laminopathies": a wide spectrum of human diseases. Exp. Cell Res. 313, 2121-2133 (Pubitemid 46850729)
8. Garg, A., Peshock, R.M. and Fleckenstein, J.L. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J. Clin. Endocrinol. Metab. 84, 170-174 (Pubitemid 29036696)
9. Hegele, R.A., Anderson, C.M., Wang, J., Jones, D.C. and Cao, H. (2000) Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Res. 10, 652-658 (Pubitemid 30333193)
10. Vigouroux, C., Magré, J., Vantyghem, M.C., Bourut, C., Lascols, O., Shackleton, S., Lloyd, D.J., Guerci, B., Padova, G., Valensi, P. et al. (2000) 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 49, 1958-1962
11. Vantyghem, M.C., Vincent-Desplanques, D., Defrance-Faivre, F., Capeau, J., Fermon, C., Valat, A.S., Lascols, O., Hécart, A.C., Pigny, P., Delemer, B. et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. J. Clin. Endocrinol. Metab. 93, 2223-2229 (Pubitemid 351843342)
12. Garg, A. (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J. Clin. Endocrinol. Metab. 85, 1776-1782
13. Lüdtke, A., Genschel, J., Brabant, G., Bauditz, J., Taupitz, M., Koch, M., Wermke, W., Worman, H.J. and Schmidt, H.H. (2005) Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. J. Clin. Invest. 109, 1345-1350
14. Hegele, R.A. (2001) Premature atherosclerosis associated with monogenic insulin resistance. Circulation 103, 2225-2229
15. Vantyghem, M.C., Pigny, P., Maurage, C.A., Rouaix-Emery, N., Stojkovic, T., Cuisset, J.M., Millaire, A., Lascols, O., Vermersch, P., Wémeau, 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 (Pubitemid 39518406)
16. Wojtanik, K.M., Edgemon, K., Viswanadha, S., Lindsey, B., Haluzik, M., Chen, W., Poy, G., Reitman, M. and Londos, C. (2009) The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. J. Lipid Res. 50, 1068-1079
17. Cao, H. and Hegele, R.A. (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet. 9, 109-112 (Pubitemid 30145295)
18. Shackleton, S., Lloyd, D.J., Jackson, S.N., Evans, R., Niermeijer, M.F., Singh, B.M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P.N. et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat. Genet. 24, 153-156 (Pubitemid 30094715)
19. Decaudain, A., Vantyghem, M.C., Guerci, B., Hécart, 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 (Pubitemid 350223467)
20. van der Kooi, A.J., Bonne, G., Eymard, B., Duboc, D., Talim, B., Van der Valk, M., Reiss, P., Richard, P., Demay, L., Merlini, L. et al. (2002) Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 59, 620-623 (Pubitemid 34920003)
21. Garg, A., Speckman, R.A. and Bowcock, A.M. (2002) Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and α-helical rod domains of the lamin A/C gene. Am. J. Med. 112, 549-555 (Pubitemid 34518315)
22. Le Dour, C., Schneebeli, S., Bakiri, F., Darcel, F., Jacquemont, M.L., Maubert, M.A., Auclair, M., Jeziorowska, D., Reznik, Y., Béréziat, V. et al. (2011) A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. J. Clin. Endocrinol. Metab. 96, E856-E862
23. De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C.L., Munnich, A., Le Merrer, M. and Lévy, N. (2003) Lamin A truncation in Hutchinson-Gilford progeria. Science 300, 2055 (Pubitemid 36760124)
24. Eriksson, M., Brown, W.T., Gordon, L.B., Glynn, M.W., Singer, J., Scott, L., Erdos, M.R., Robbins, C.M., Moses, T.Y., Berglund, P. et al. (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293-298 (Pubitemid 40852699)
25. Merideth, M.A., Gordon, L.B., Clauss, S., Sachdev, V., Smith, A.C., Perry, M.B., Brewer, C.C., Zalewski, C., Kim, H.J., Solomon, B. et al. (2008) Phenotype and course of Hutchinson-Gilford progeria syndrome. N. Engl. J. Med. 358, 592-604 (Pubitemid 351214286)
26. Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M.R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R. et al. (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet. 71, 426-431 (Pubitemid 34800259)
27. 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 (Pubitemid 37038808)
28. Caux, F., Dubosclard, E., Lascols, O., Buendia, B., Chazouillères, O., Cohen, A., Courvalin, J.C., Laroche, L., Capeau, J., Vigouroux, C. and Christin-Maitre, S. (2003) 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. 88, 1006-1013 (Pubitemid 36337748)
29. Garg, A., Subramanyam, L., Agarwal, A.K., Simha, V., Levine, B., D'Apice, M.R., Novelli, G. and Crow, Y. (2009) Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J. Clin. Endocrinol. Metab. 94, 4971-4983
30. Young, J., Morbois-Trabut, L., Couzinet, B., Lascols, O., Dion, E., Béréziat, V., Fève, B., Richard, I., Capeau, J., Chanson, P. and Vigouroux, C. (2005) Type A insulin resistance syndrome revealing a novel lamin A mutation. Diabetes 54, 1873-1878 (Pubitemid 40770779)
31. Araujo-Vilar, D., Lattanzi, G., González-Méndez, B., Costa-Freitas, A.T., Prieto, D., Columbaro, M., Mattioli, E., Victoria, B., Martínez-Sánchez, N., Ramazanova, A. et al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. J. Med. Genet. 46, 40-48
32. Béréziat, V., Cervera, P., Le Dour, C., Verpont, M.C., Dumont, S., Vantyghem, M.C., Capeau, J. and Vigouroux, C. (2011) LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue. Am. J. Pathol. 179, 2443-2453
33. Vigouroux, C., Auclair, M., Dubosclard, E., Pouchelet, M., Capeau, J., Courvalin, J.C. and Buendia, B. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J. Cell Sci. 114, 4459-4468 (Pubitemid 34082866)
34. Muchir, A., Medioni, J., Laluc, M., Massart, C., Arimura, T., van der Kooi, A.J., Desguerre, I., Mayer, M., Ferrer, X., Briault, S. et al. (2004) Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 30, 444-450 (Pubitemid 39288147)
35. Capanni, C., Cenni, V., Mattioli, E., Sabatelli, P., Ognibene, A., Columbaro, M., Parnaik, V.K., Wehnert, M., Maraldi, N.M., Squarzoni, S. and Lattanzi, G. (2003) Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. Exp. Cell Res. 291, 122-134 (Pubitemid 37345152)
36. Pendás, A.M., Zhou, Z., Cadiñanos, J., Freije, J.M., Wang, J., Hultenby, K., Astudillo, A., Wernerson, A., Rodríguez, F., Tryggvason, K. and López-Otín, C. (2002) Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat. Genet. 31, 94-99
37. Caron, M., Auclair, M., Donadille, B., Béréziat, V., Guerci, B., Laville, M., Narbonne, H., Bodemer, C., Lascols, O., Capeau, J. and Vigouroux, C. (2007) Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence. Cell Death Differ. 14, 1759-1767 (Pubitemid 47423643)
38. Fong, L.G., Ng, J.K., Meta, M., Cote, N., Yang, S.H., Stewart, C.L., Sullivan, T., Burghardt, A., Majumdar, S., Reue, K. et al. (2004) Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc. Natl. Acad. Sci. U.S.A. 101, 18111-18116 (Pubitemid 40054082)
39. Yang, S.H., Bergo, M.O., Toth, J.I., Qiao, X., Hu, Y., Sandoval, S., Meta, M., Bendale, P., Gelb, M.H., Young, S.G. and Fong, L.G. (2005) Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc. Natl. Acad. Sci. U.S.A. 102, 10291-10296 (Pubitemid 41023365)
40. Varela, I., Pereira, S., Ugalde, A.P., Navarro, C.L., Suarez, M.F., Cau, P., Cadiñanos, J., Osorio, F.G., Foray, N., Cobo, J. et al. (2008) Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat. Med. 14, 767-772
41. Capanni, C., Mattioli, E., Columbaro, M., Lucarelli, E., Parnaik, V.K., Novelli, G., Wehnert, M., Cenni, V., Maraldi, N.M., Squarzoni, S. and Lattanzi, G. (2005) Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum. Mol. Genet. 14, 1489-1502 (Pubitemid 40823458)
42. Coffinier, C., Hudon, S.E., Farber, E.A., Chang, S.Y., Hrycyna, C.A., Young, S.G. and Fong, L.G. (2007) HIV protease inhibitors block the zinc metalloproteinase ZMPSTE24 and lead to an accumulation of prelamin A in cells. Proc. Natl. Acad. Sci. U.S.A. 104, 13432-13437 (Pubitemid 47293962)
43. Lloyd, D.J., Trembath, R.C. and Shackleton, S. (2002) A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum. Mol. Genet. 11, 769-777 (Pubitemid 34428644)
44. Caron, M., Auclair, M., Sterlingot, H., Kornprobst, M. and Capeau, J. (2003) Some HIV protease inhibitors alter lamin A/C maturation and stability, SREBP-1 nuclear localization and adipocyte differentiation. AIDS 17, 2437-2444 (Pubitemid 38393315)
45. Muchir, A., Pavlidis, P., Decostre, V., Herron, A.J., Arimura, T., Bonne, G. and Worman, H.J. (2007) Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J. Clin. Invest. 117, 1282-1293 (Pubitemid 46718416)
46. Simha, V., Rao, S. and Garg, A. (2008) Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. Diabetes Obes. Metab. 10, 1275-1276
47. Oral, E.A., Simha, V., Ruiz, E., Andewelt, A., Premkumar, A., Snell, P., Wagner, A.J., DePaoli, A.M., Reitman, M.L., Taylor, S.I. et al. (2002) Leptin-replacement therapy for lipodystrophy. N. Engl. J. Med. 346, 570-578 (Pubitemid 34438818)
48. Park, J.Y., Javor, E.D., Cochran, E.K., DePaoli, A.M. and Gorden, P. (2007) Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. Metab., Clin. Exp. 56, 508-516 (Pubitemid 46427848)
49. Petersen, K.F., Oral, E.A., Dufour, S., Befroy, D., Ariyan, C., Yu, C., Cline, G.W., DePaoli, A.M., Taylor, S.I., Gorden, P. and Shulman, G.I. (2002) Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J. Clin. Invest. 109, 1345-1350 (Pubitemid 34546899)