naa a22 4500 510779409 CHVBK 20180411083241.0 cr unu---uuuuu 180411e20131201xx s 000 0 eng 10.1007/s11892-013-0431-7 doi (NATIONALLICENCE)springer-10.1007/s11892-013-0431-7 What the Genetics of Lipodystrophy Can Teach Us About Insulin Resistance and Diabetes [Elektronische Daten] [Camille Vatier, Guillaume Bidault, Nolwenn Briand, Anne-Claire Guénantin, Laurence Teyssières, Olivier Lascols, Jacqueline Capeau, Corinne Vigouroux] Genetic lipodystrophic syndromes are rare diseases characterized by generalized or partial fat atrophy (lipoatrophy) associated with severe metabolic complications such as insulin resistance (IR), diabetes, dyslipidemia, nonalcoholic fatty liver disease, and ovarian hyperandrogenism. During the last 15years, mutations in several genes have been shown to be responsible for monogenic forms of lipodystrophic syndromes, of autosomal dominant or recessive transmission. Although the molecular basis of lipodystrophies is heterogeneous, most mutated genes lead to impaired adipogenesis, adipocyte lipid storage, and/or formation or maintenance of the adipocyte lipid droplet (LD), showing that primary alterations of adipose tissue (AT) can result in severe systemic metabolic and endocrine consequences. The reduced expandability of AT alters its ability to buffer excess caloric intake, leading to ectopic lipid storage that impairs insulin signaling and other cellular functions ("lipotoxicity”). Genetic studies have also pointed out the close relationships between ageing, inflammatory processes, lipodystrophy, and IR. Springer Science+Business Media New York, 2013 Adipose tissue nationallicence Lipodystrophy nationallicence Lipid droplets nationallicence Adipogenesis nationallicence Insulin resistance nationallicence Diabetes nationallicence Dyslipidemia nationallicence Liver steatosis nationallicence Polycystic ovary syndrome nationallicence Ageing nationallicence Genetics nationallicence Seipin nationallicence AGPAT2 nationallicence A-type lamins nationallicence PPARγ nationallicence Perilipin nationallicence Caveolin 1 nationallicence Cavin 1 nationallicence Caveolae nationallicence CIDEC nationallicence Akt2 nationallicence PSMB8 nationallicence Progeria nationallicence ZMPSTE24 nationallicence Genetics nationallicence Vatier Camille INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Bidault Guillaume INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Briand Nolwenn INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Guénantin Anne-Claire INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Teyssières Laurence INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Lascols Olivier INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Capeau Jacqueline INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Vigouroux Corinne INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut Current Diabetes Reports Springer US; http://www.springer-ny.com 13/6(2013-12-01), 757-767 1534-4827 13:6<757 2013 13 11892 https://doi.org/10.1007/s11892-013-0431-7 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s11892-013-0431-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vatier Camille INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Bidault Guillaume INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Briand Nolwenn INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Guénantin Anne-Claire INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Teyssières Laurence INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Lascols Olivier INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Capeau Jacqueline INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 700 1- Vigouroux Corinne INSERM UMR_S938, Centre de Recherche Saint-Antoine, 75012, Paris, France aut NATIONALLICENCE 773 0- Current Diabetes Reports Springer US; http://www.springer-ny.com 13/6(2013-12-01), 757-767 1534-4827 13:6<757 2013 13 11892 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer