Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease.

ABSTRACT:

Objective

Mutations to the BSCL2 gene disrupt the protein seipin and cause the most severe form of congenital generalised lipodystrophy (CGL). Affected individuals exhibit a near complete loss of white adipose tissue (WAT) and suffer from metabolic disease. Seipin is critical for adipocyte development in culture and mice with germline disruption to Bscl2 recapitulate the effects of BSCL2 disruption in humans. Here we examined whether loss of Bscl2 specifically in developing adipocytes in vivo is sufficient to prevent adipose tissue development and cause all features observed with congenital BSCL2 disruption.

Methods

We generated and characterised a novel mouse model of Bscl2 deficiency in developing adipocytes (Ad-B2^(-/-)) using the adipose-specific Adiponectin-Cr

SUBMITTER: Mcilroy GD 

PROVIDER: S-EPMC5985228 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature