Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.

ABSTRACT: GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from a GLB1 gene mutation causing a deficiency of the lysosomal enzyme β-galactosidase, which leads to the abnormal accumulation of GM1 ganglioside in the central nervous system. In the most severe early infantile phenotype, excessive ganglioside accumulation results in a rapid decline in neurological and psychomotor functions, and death occurs within 2 years of age. Currently, there is no effective therapy for GM1-gangliosidosis. In this study, we evaluated the therapeutic efficacy of ex vivo gene therapy targeting hematopoietic stem cells using a lentiviral vector to increase enzyme activity, reduce substrate accumulation, and improve astrocytosis and motor function. Transplanting GLB1-tra

SUBMITTER: Tsunogai T 

PROVIDER: S-EPMC9118356 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature