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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Lipodystrophy


Psychiatry related information on Lipodystrophy


High impact information on Lipodystrophy


Chemical compound and disease context of Lipodystrophy

  • However, of the 21 patients with partial lipodystrophy, 17 had low serum C3, with normal C4 and C2, concentrations, accompanied in 14 by a serum C3 splitting factor indistinguishable from nephritic factor, suggesting activation of the alternative pathway [9].
  • MAIN OUTCOME MEASURES: The primary end point was limb fat mass, measured by dual-energy x-ray absorptiometry; key secondary end points were plasma HIV RNA levels, adverse events, physician-assessed (via subjective measures) lipodystrophy severity, total and central fat mass, and fasting metabolic (lipid, glycemic, and lactate) levels [10].
  • Weight before therapy, fasting triglyceride, and C-peptide concentrations early in therapy, and therapy duration seem to predict lipodystrophy severity [11].
  • Treatment of lipodystrophy with troglitazone [12].
  • The finding of relative preservation of fat associated with gemfibrozil therapy deserves further investigation in the search of potential effective therapies for lipodystrophy in HIV-infected subjects [13].

Biological context of Lipodystrophy


Anatomical context of Lipodystrophy


Gene context of Lipodystrophy

  • Site and mechanism of leptin action in a rodent form of congenital lipodystrophy [24].
  • We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy [25].
  • Prevalence of mutations in AGPAT2 among human lipodystrophies [26].
  • The germline transmission of a transactivation-deficient mutation in PPARG suggests that autosomal dominant partial lipodystrophy is genetically heterogeneous [27].
  • OBJECTIVES: To examine whether ARV therapy might inhibit the expression of CD36, which is known to play an important role in fatty acid and glucose metabolism, and if this might contribute to the metabolic alterations associated with lipodystrophy [28].

Analytical, diagnostic and therapeutic context of Lipodystrophy


  1. Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice. Yamauchi, T., Oike, Y., Kamon, J., Waki, H., Komeda, K., Tsuchida, A., Date, Y., Li, M.X., Miki, H., Akanuma, Y., Nagai, R., Kimura, S., Saheki, T., Nakazato, M., Naitoh, T., Yamamura, K., Kadowaki, T. Nat. Genet. (2002) [Pubmed]
  2. Metformin in the treatment of HIV lipodystrophy syndrome: A randomized controlled trial. Hadigan, C., Corcoran, C., Basgoz, N., Davis, B., Sax, P., Grinspoon, S. JAMA (2000) [Pubmed]
  3. Risk of lipodystrophy in HIV-1-infected patients treated with protease inhibitors: a prospective cohort study. Martinez, E., Mocroft, A., García-Viejo, M.A., Pérez-Cuevas, J.B., Blanco, J.L., Mallolas, J., Bianchi, L., Conget, I., Blanch, J., Phillips, A., Gatell, J.M. Lancet (2001) [Pubmed]
  4. Mitochondrial studies in HAART-related lipodystrophy: from experimental hypothesis to clinical findings. Miró, O., López, S., Cardellach, F., Casademont, J. Antivir. Ther. (Lond.) (2005) [Pubmed]
  5. Predictors of hypertension and changes of blood pressure in HIV-infected patients. Thiébaut, R., El-Sadr, W.M., Friis-Møller, N., Rickenbach, M., Reiss, P., Monforte, A.D., Morfeldt, L., Fontas, E., Kirk, O., De Wit, S., Calvo, G., Law, M.G., Dabis, F., Sabin, C.A., Lundgren, J.D. Antivir. Ther. (Lond.) (2005) [Pubmed]
  6. Incidence and risk factors for mitochondrial toxicity in treated HIV/HCV-coinfected patients. Laguno, M., Milinkovic, A., de Lazzari, E., Murillas, J., Martínez, E., Blanco, J.L., Loncá, M., Biglia, A., Leon, A., García, M., Larrousse, M., García, F., Miró, J.M., Gatell, J.M., Mallolas, J. Antivir. Ther. (Lond.) (2005) [Pubmed]
  7. Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. Péterfy, M., Phan, J., Xu, P., Reue, K. Nat. Genet. (2001) [Pubmed]
  8. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 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. Nat. Genet. (2000) [Pubmed]
  9. The complement abnormalities of lipodystrophy. Sissons, J.G., West, R.J., Fallows, J., Williams, D.G., Boucher, B.J., Amos, N., Peters, D.K. N. Engl. J. Med. (1976) [Pubmed]
  10. Abacavir substitution for nucleoside analogs in patients with HIV lipoatrophy: a randomized trial. Carr, A., Workman, C., Smith, D.E., Hoy, J., Hudson, J., Doong, N., Martin, A., Amin, J., Freund, J., Law, M., Cooper, D.A. JAMA (2002) [Pubmed]
  11. Diagnosis, prediction, and natural course of HIV-1 protease-inhibitor-associated lipodystrophy, hyperlipidaemia, and diabetes mellitus: a cohort study. Carr, A., Samaras, K., Thorisdottir, A., Kaufmann, G.R., Chisholm, D.J., Cooper, D.A. Lancet (1999) [Pubmed]
  12. Treatment of lipodystrophy with troglitazone. Cheng, J.S. Ann. Intern. Med. (2001) [Pubmed]
  13. Effects of metformin or gemfibrozil on the lipodystrophy of HIV-infected patients receiving protease inhibitors. Martínez, E., Domingo, P., Ribera, E., Milinkovic, A., Arroyo, J.A., Conget, I., Pérez-Cuevas, J.B., Casamitjana, R., de Lazzari, E., Bianchi, L., Montserrat, E., Roca, M., Burgos, R., Arnaiz, J.A., Gatell, J.M. Antivir. Ther. (Lond.) (2003) [Pubmed]
  14. Unbuckling lipodystrophy from insulin resistance and hypertension. Hegele, R.A., Leff, T. J. Clin. Invest. (2004) [Pubmed]
  15. Conjugated linoleic acid supplementation reduces adipose tissue by apoptosis and develops lipodystrophy in mice. Tsuboyama-Kasaoka, N., Takahashi, M., Tanemura, K., Kim, H.J., Tange, T., Okuyama, H., Kasai, M., Ikemoto, S., Ezaki, O. Diabetes (2000) [Pubmed]
  16. TNF-alpha promoter region gene polymorphisms in HIV-positive patients with lipodystrophy. Maher, B., Alfirevic, A., Vilar, F.J., Wilkins, E.G., Park, B.K., Pirmohamed, M. AIDS (2002) [Pubmed]
  17. Drug interaction of isotretinoin and protease inhibitors: support for the cellular retinoic acid-binding protein-1 theory of lipodystrophy? Padberg, J., Schürmann, D., Grobusch, M., Bergmann, F. AIDS (1999) [Pubmed]
  18. Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. Holt, I., Ostlund, C., Stewart, C.L., Man, N., Worman, H.J., Morris, G.E. J. Cell. Sci. (2003) [Pubmed]
  19. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. Malloy, P.J., Eccleshall, T.R., Gross, C., Van Maldergem, L., Bouillon, R., Feldman, D. J. Clin. Invest. (1997) [Pubmed]
  20. Expression of adipogenic transcription factors, peroxisome proliferator-activated receptor gamma co-activator 1, IL-6 and CD45 in subcutaneous adipose tissue in lipodystrophy associated with highly active antiretroviral therapy. Kannisto, K., Sutinen, J., Korsheninnikova, E., Fisher, R.M., Ehrenborg, E., Gertow, K., Virkamäki, A., Nyman, T., Vidal, H., Hamsten, A., Yki-Järvinen, H. AIDS (2003) [Pubmed]
  21. Role of CD95-mediated adipocyte loss in autoimmune lipodystrophy. Fischer-Posovszky, P., Hebestreit, H., Hofmann, A.K., Strauss, G., Möller, P., Debatin, K.M., Wabitsch, M. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  22. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. Simha, V., Garg, A. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  23. Inner nuclear membrane proteins: functions and targeting. Holmer, L., Worman, H.J. Cell. Mol. Life Sci. (2001) [Pubmed]
  24. Site and mechanism of leptin action in a rodent form of congenital lipodystrophy. Asilmaz, E., Cohen, P., Miyazaki, M., Dobrzyn, P., Ueki, K., Fayzikhodjaeva, G., Soukas, A.A., Kahn, C.R., Ntambi, J.M., Socci, N.D., Friedman, J.M. J. Clin. Invest. (2004) [Pubmed]
  25. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Agarwal, A.K., Fryns, J.P., Auchus, R.J., Garg, A. Hum. Mol. Genet. (2003) [Pubmed]
  26. Prevalence of mutations in AGPAT2 among human lipodystrophies. Magré, J., Delépine, 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. Diabetes (2003) [Pubmed]
  27. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Hegele, R.A., Cao, H., Frankowski, C., Mathews, S.T., Leff, T. Diabetes (2002) [Pubmed]
  28. CD36 deficiency induced by antiretroviral therapy. Serghides, L., Nathoo, S., Walmsley, S., Kain, K.C. AIDS (2002) [Pubmed]
  29. Triglyceride increase can predict lipodystrophy in HIV patients under highly active antiretroviral therapy. Rodriguez-Guardado, A., Maradona, J.A., Carton, J.A., Asensi, V. AIDS (2002) [Pubmed]
  30. Lipodystrophy-associated morphological, cholesterol and triglyceride abnormalities in a population-based HIV/AIDS treatment database. Heath, K.V., Hogg, R.S., Chan, K.J., Harris, M., Montessori, V., O'Shaughnessy, M.V., Montanera, J.S. AIDS (2001) [Pubmed]
  31. The effect of fenfluramine and caloric restriction on carbohydrate homeostasis in patients with lipodystrophy. Wilson, T.A., Melton, T., Clarke, W.L. Diabetes Care (1983) [Pubmed]
  32. Hypoadiponectinemia is associated with insulin resistance, hypertriglyceridemia, and fat redistribution in human immunodeficiency virus-infected patients treated with highly active antiretroviral therapy. Addy, C.L., Gavrila, A., Tsiodras, S., Brodovicz, K., Karchmer, A.W., Mantzoros, C.S. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  33. Histological findings and clinical characteristics associated with hepatic steatosis in patients coinfected with HIV and hepatitis C virus. Marks, K.M., Petrovic, L.M., Talal, A.H., Murray, M.P., Gulick, R.M., Glesby, M.J. J. Infect. Dis. (2005) [Pubmed]
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