Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy.

ABSTRACT: Congenital generalized lipodystrophy type 2 is a serious multisystem disorder with limited treatment options. It is caused by mutations affecting the BSCL2 gene, which encodes the protein seipin. Patients with congenital generalized lipodystrophy type 2 lack both metabolic and mechanical adipose tissue and develop severe metabolic complications including hepatic steatosis, lipoatrophic diabetes, and cardiovascular disease. Gene therapies are becoming viable treatments, helping to alleviate inherited and acquired human disorders. We aimed to determine whether gene therapy could offer an effective form of medical intervention for lipodystrophy. We examined whether systemic adeno-associated virus delivery of human BSCL2 could reverse metabolic disease in seipin knockout mice, wh

SUBMITTER: Sommer N 

PROVIDER: S-EPMC9589143 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature