Semin Cell Dev Biol 2014 May 30;29:148-57. Epub 2013 Dec 30.
INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France; ICAN, Institute of Cardiometabolism and Nutrition, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S938, F-75005 Paris, France; AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie, F-75020 Paris, France. Electronic address:
Several alterations in nuclear envelope proteins building up the lamina meshwork beneath the inner nuclear membrane (mutations in lamins A/C, alterations of prelamin-A maturation, lamin B mutations or deregulation) have been shown to be responsible for or associated to human lipodystrophic syndromes. Lipodystrophic syndromes are rare and heterogeneous diseases, either genetic or acquired, characterized by generalized or partial fat atrophy associated with metabolic complications comprising insulin-resistant diabetes, dyslipidemia, and non-alcoholic fatty liver disease. Recent advances in the molecular genetics of different types of lipodystrophies generally pointed to primary adipocyte alterations leading to impaired adipogenesis and/or deregulation of the adipocyte lipid droplet. Read More