Leptin therapy for partial lipodystrophy linked to a PPAR-γ mutation

Clinical Endocrinology

Volumn 68, Issue 4, 2008, Pages 547-554

  Guettier, Jean Marc ^a   Park, Jean Y ^a   Cochran, Elaine K ^a   Poitou, Christine ^b   Basdevant, Arnaud ^b,c   Meier, Muriel ^d,e   Clément, Karine ^b,c   Magré, Jocelyne ^d,e   Gorden, Phillip ^a,f  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b CENTRE DE RECHERCHE DES CORDELIERS   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f CRC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIRETROVIRUS AGENT; CIPROFIBRATE; FELODIPINE PLUS METOPROLOL; GLIMEPIRIDE; GLUCOSE; HEMOGLOBIN A1C; HYDROCHLOROTHIAZIDE PLUS VALSARTAN; LAMIN A; LAMIN C; LIPID; MIGLITOL; RECOMBINANT LEPTIN; ROSIGLITAZONE;

ADULT; ARTICLE; BODY FAT; CASE REPORT; DIABETES MELLITUS; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG DOSE ESCALATION; DRUG DOSE INCREASE; DRUG EFFICACY; DYSLIPIDEMIA; ENERGY EXPENDITURE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; HETEROZYGOSITY; HIGHLY ACTIVE ANTIRETROVIRAL THERAPY; HUMAN; HYPERLIPIDEMIA; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; INSULIN TOLERANCE TEST; LIPID ANALYSIS; LIPODYSTROPHY; LIVER WEIGHT; LMNA GENE; METABOLIC DISORDER; ORAL GLUCOSE TOLERANCE TEST; PPAR GAMMA GENE; PRIORITY JOURNAL; RECEPTOR GENE; SUBCUTANEOUS FAT; TREATMENT RESPONSE;

ADULT; FEMALE; HUMANS; LEPTIN; LIPODYSTROPHY; PPAR GAMMA; TREATMENT OUTCOME;

EID: 40749092411     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.03095.x     Document Type: Article

References (34)

1. Peters, J.M., Barnes, R., Bennett, L., Gitomer, W.M., Bowcock, A.M. Garg, A. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nature Genetics, 18, 292 295.
2. 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., Gregory, S., O'Rahilly, S. Trembath, R.C. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genetics, 24, 153 156.
3. Cao, H. Hegele, R.A. (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Human Molecular Genetics, 9, 109 112.
4. Barroso, I., Gurnell, M., Crowley, V.E., Agostini, M., Schwabe, J.W., Soos, M.A., Maslen, G.L., Williams, T.D., Lewis, H., Schafer, A.J., Chatterjee, V.K. O'Rahilly, S. (1999) Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature, 402, 880 883.
5. Agarwal, A.K. Garg, A. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. Journal of Clinical Endocrinology and Metabolism, 87, 408 411.
6. Hegele, R.A., Cao, H., Frankowski, C., Mathews, S.T. Leff, T. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes, 51, 3586 3590.
7. Savage, D.B., Tan, G.D., Acerini, C.L., Jebb, S.A., Agostini, M., Gurnell, M., Williams, R.L., Umpleby, A.M., Thomas, E.L., Bell, J.D., Dixon, A.K., Dunne, F., Boiani, R., Cinti, S., Vidal-Puig, A., Karpe, F., Chatterjee, V.K.K. O'Rahilly, S. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-{gamma}. Diabetes, 52, 910 917.
8. Al-Shali, K., Cao, H., Knoers, N., Hermus, A.R., Tack, C.J. Hegele, R.A. (2004) A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. Journal of Clinical Endocrinology and Metabolism, 89, 5655 5660.
9. Francis, G.A., Li, G., Casey, R., Wang, J., Cao, H., Leff, T. Hegele, R.A. (2006) Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Medical Genetics, 7, 3.
10. Hegele, R.A., Ur, E., Ransom, T.P. Cao, H. (2006) A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). Clinical Genetics, 70, 360 362.
11. Monajemi, H., Zhang, L., Li, G., Jeninga, E.H., Cao, H., Maas, M., Brouwer, C.B., Kalkhoven, E., Stroes, E., Hegele, R.A. Leff, T. (2007) Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-{gamma}. Journal of Clinical Endocrinology and Metabolism, 92, 1606 1612.
12. Ludtke, A., Buettner, J., Wu, W., Muchir, A., Schroeter, A., Zinn-Justin, S., Spuler, S., Schmidt, H.H.J. Worman, H.J. (2007) Peroxisome proliferator-activated receptor-{gamma} C190S mutation causes partial lipodystrophy. Journal of Clinical Endocrinology and Metabolism, 92, 2248 2255.
13. George, S., Rochford, J.J., Wolfrum, C., Gray, S.L., Schinner, S., Wilson, J.C., Soos, M.A., Murgatroyd, P.R., Williams, R.M., Acerini, C.L., Dunger, D.B., Barford, D., Umpleby, A.M., Wareham, N.J., Davies, H.A., Schafer, A.J., Stoffel, M., O'Rahilly, S. Barroso, I. (2004) A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science, 304, 1325 1328.
14. 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., Gorden, P. Garg, A. (2002) Leptin-replacement therapy for lipodystrophy. New England Journal of Medicine, 346, 570 578.
15. Javor, E.D., Cochran, E.K., Musso, C., Young, J.R., Depaoli, A.M. Gorden, P. (2005) Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes, 54, 1994 2002.
16. Ebihara, K., Kusakabe, T., Hirata, M., Masuzaki, H., Miyanaga, F., Kobayashi, N., Tanaka, T., Chusho, H., Miyazawa, T., Hayashi, T., Hosoda, K., Ogawa, Y., DePaoli, A.M., Fukushima, M. Nakao, K. (2007) Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. Journal of Clinical Endocrinology and Metabolism, 92, 532 541.
17. Park, J.Y., Javor, E.D., Cochran, E.K., DePaoli, A.M. Gorden, P. (2007) Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. Metabolism, 56, 508 516.
18. Robert, J.J., Rakotoambinina, B., Cochet, I., Foussier, V., Magre, J., Darmaun, D., Chevenne, D. Capeau, J. (1993) The development of hyperglycaemia in patients with insulin-resistant generalized lipoatrophic syndromes. Diabetologia, 36, 1288 1292.
19. Vigouroux, C., Fajas, L., Khallouf, E., Meier, M., Gyapay, G., Lascols, O., Auwerx, J., Weissenbach, J., Capeau, J. Magre, J. (1998) Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes. Diabetes, 47, 490 492.
20. Desbois-Mouthon, C., Magre, J., Amselem, S., Reynet, C., Blivet, M.J., Goossens, M., Capeau, J. Besmond, C. (1995) Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene. Journal of Clinical Endocrinology and Metabolism, 80, 314 319.
21. Vigouroux, C., Magre, J., Vantyghem, M.C., Bourut, C., Lascols, O., Shackleton, S., Lloyd, D.J., Guerci, B., Padova, G., Valensi, P., Grimaldi, A., Piquemal, R., Touraine, P., Trembath, R.C. Capeau, J. (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.
22. Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T. Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., Bachy, A., Verloes, A., d'Abronzo, F.H., Seemanova, E., Assan, R., Baudic, N., Bourut, C., Czernichow, P., Huet, F., Grigorescu, F., de Kerdanet, M., Lacombe, D., Labrune, P., Lanza, M., Loret, H., Matsuda, F., Navarro, J., Nivelon-Chevalier, A., Polak, M., Robert, J.J., Tric, P., Tubiana-Rufi, N., Vigouroux, C., Weissenbach, J., Savasta, S., Maassen, J.A., Trygstad, O., Bogalho, P., Freitas, P., Medina, J.L., Bonnicci, F., Joffe, B.I., Loyson, G., Panz, V.R., Raal, F.J., O'Rahilly, S., Stephenson, T., Kahn, C.R., Lathrop, M. Capeau, J. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nature Genetics, 28, 365 370.
23. Magre, J., Delepine, M., Van Maldergem, L., Robert, J.J., Maassen, J.A., Meier, M., Panz, V.R., Kim, C.A., Tubiana-Rufi, N., Czernichow, P., Seemanova, E., Buchanan, C.R., Lacombe, D., Vigouroux, C., Lascols, O., Kahn, C.R., Capeau, J. Lathrop, M. (2003) Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes, 52, 1573 1578.
24. Musso, C., Cochran, E., Javor, E., Young, J., Depaoli, A.M. Gorden, P. (2005) The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients. Metabolism, 54, 255 263.
25. Lee, J.H., Chan, J.L., Sourlas, E., Raptopoulos, V. Mantzoros, C.S. (2006) Recombinant methionyl human leptin therapy in replacement doses improves insulin resistance and metabolic profile in patients with lipoatrophy and metabolic syndrome induced by the highly active antiretroviral therapy. Journal of Clinical Endocrinology and Metabolism, 91, 2605 2611.
26. Owen, K.R., Donohoe, M., Ellard, S. Hattersley, A.T. (2003) Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabetic Medicine, 20, 823 827.
27. Ludtke, A., Heck, K., Genschel, J., Mehnert, H., Spuler, S., Worman, H.J. Schmidt, H.H. (2005) Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. Diabetic Medicine, 22, 1611 1613.
28. Hadigan, C., Yawetz, S., Thomas, A., Havers, F., Sax, P.E. Grinspoon, S. (2004) Metabolic effects of rosiglitazone in HIV lipodystrophy: a randomized, controlled trial. Annals of Internal Medicine, 140, 786 794.
29. Sutinen, J., Hakkinen, A.M., Westerbacka, J., Seppala-Lindroos, A., Vehkavaara, S., Halavaara, J., Jarvinen, A., Ristola, M. Yki-Jarvinen, H. (2003) Rosiglitazone in the treatment of HAART-associated lipodystrophy: a randomized double-blind placebo-controlled study. Antiviral Therapy, 8, 199 207.
30. Carr, A., Workman, C., Carey, D., Rogers, G., Martin, A., Baker, D., Wand, H., Law, M., Samaras, K., Emery, S. Cooper, D.A. (2004) No effect of rosiglitazone for treatment of HIV-1 lipoatrophy: randomised, double-blind, placebo-controlled trial. Lancet, 363, 429 438.
31. van Wijk, J.P., de Koning, E.J., Cabezas, M.C., op't Roodt, J., Joven, J., Rabelink, T.J. Hoepelman, A.I. (2005) Comparison of rosiglitazone and metformin for treating HIV lipodystrophy: a randomized trial. Annals of Internal Medicine, 143, 337 346.
32. Jeninga, E.H., van Beekum, O., van Dijk, A.D., Hamers, N., Hendriks-Stegeman, B.I., Bonvin, A.M., Berger, R. Kalkhoven, E. (2007) Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. Molecular Endocrinology, 21, 1049 1065.
33. Tsai, Y.S., Kim, H.J., Takahashi, N., Kim, H.S., Hagaman, J.R., Kim, J.K. Maeda, N. (2004) Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. Journal of Clinical Investigation, 114, 240 249.
34. Gray, S.L., Nora, E.D., Grosse, J., Manieri, M., Stoeger, T., Medina-Gomez, G., Burling, K., Wattler, S., Russ, A., Yeo, G.S., Chatterjee, V.K., O'Rahilly, S., Voshol, P.J., Cinti, S. Vidal-Puig, A. (2006) Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. Diabetes, 55, 2669 2677.