title: Mouse models of lipodystrophy and their significance in understanding fat regulation.
abstract: Adipose tissue plays a critical role in human metabolic health. This is most dramatically illustrated by the severe metabolic disease that occurs in syndromes of lipodystrophy where individuals fail to develop or maintain appropriate adipose tissue mass. The most severe form of this disorder is congenital generalized lipodystrophy (CGL). Individuals with CGL have a striking paucity of adipose tissue and typically display severe metabolic disease with insulin resistance and dyslipidemia. Understanding of the metabolic consequences of lipodystrophies and their underlying molecular mechanisms will provide new information regarding the development and function of human adipose tissue. Mouse models of these conditions offer key resources to investigate this in vivo. Adipocyte dysfunction is believed to underlie the development of metabolic disease in obesity. Hence, understanding how one might beneficially manipulate adipose tissue by studying genes whose disruption causes lipodystrophy is likely to suggest novel means to improve metabolic health in common obesity.
authors.affiliation: Rowett Institute of Nutrition and Health, University of Aberdeen, Foresterhill, Aberdeen, UK. Electronic address: j.rochford@abdn.ac.uk.
authors.forename: Justin J
authors.initials: JJ
authors.lastname: Rochford
mesh_terms: D000217:Acyltransferases / Q000235:genetics; D050156:Adipogenesis / Q000502:physiology; D000273:Adipose Tissue / Q000502:physiology*; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics; D051242:Caveolin 1 / Q000235:genetics; D004195:Disease Models, Animal; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D050356:Lipid Metabolism / Q000502:physiology*; D008060:Lipodystrophy / Q000235:genetics* / Q000503:physiopathology*; D051379:Mice; D018345:Mice, Knockout; D008954:Models, Biological; D047495:PPAR gamma / Q000235:genetics; D000070778:Perilipin-1; D010750:Phosphoproteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics
chemical_list: C432679:BSCL2 protein, human; C495540:CAV1 protein, human; C497835:CAVIN1 protein, human; D002352:Carrier Proteins; D051242:Caveolin 1; D044388:GTP-Binding Protein gamma Subunits; D034904:Lamin Type A; C576142:Lmna protein, mouse; D047495:PPAR gamma; D000070778:Perilipin-1; D010750:Phosphoproteins; D011506:Proteins; D016601:RNA-Binding Proteins; C525805:fat-specific protein 27, mouse; D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase; C494922:Akt2 protein, mouse; D051057:Proto-Oncogene Proteins c-akt
keywords: Adipocytes; Adipogenesis; BSCL; CGL; FPLD; Lipids; Lipodystrophy; Metabolic disease; Obesity