Conclusions: Our findings demonstrate that disruption of Bscl2 specifically in developing adipocytes is sufficient to cause the early - onset
generalised lipodystrophy observed in patients with mutations in BSCL2.
Objective: Mutations to the BSCL2 gene disrupt the protein seipin and cause the most severe form of congenital
generalised lipodystrophy (CGL).
Adipose specific disruption of seipin causes early - onset
generalised lipodystrophy and altered fuel utilisation without severe metabolic disease