Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer.

ABSTRACT:

Background

Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in the LIPA gene, which results in lipid accumulation leading to multi-organ failure. If left untreated, the severe form of LAL-D results in premature death within the first year of life due to failure to thrive and hepatic insufficiency. Weekly systemic injections of recombinant LAL protein, referred as enzyme replacement therapy, is the only available supportive treatment.

Method

Here, we characterized a novel Lipa^-/- mouse model and developed a curative gene therapy treatment based on the in vivo administration of recombinant (r)AAV8 vector encoding the human LIPA transgene under the control of a hepatocyte-specific promoter.

Results

Here we define

SUBMITTER: Laurent M 

PROVIDER: S-EPMC11992068 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature