Adipose Loss and Metabolic Disease Due to Seipin Deficiency: Systemic Versus Tissue Specific Effects

Abstract

This thesis aimed to understand the molecular mechanisms via which BSCL2 disruption causes metabolic disease in congenital generalised lipodystrophy type 2. The results presented provide evidence that seipin has significant roles in adipose tissue, by regulating lipolysis, but also in pancreatic ß-cells where it influences insulin secretion. This work also reveals an interaction between seipin and glucagon-like peptide 1 receptor. This thesis demonstrates the therapeutic potential of liraglutide to treat metabolic disease in CGL2 patients.