Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1.

ABSTRACT: Niemann-Pick disease type C1 (NPC1) is a fatal congenital neurodegenerative disorder caused by mutations in the NPC1 gene, which is involved in cholesterol transport in lysosomes. Broad clinical manifestations of NPC1 include liver failure, pulmonary disorder, neurological deficits, and psychiatric symptoms. The main cause of death in NPC1 patients involves central nervous system (CNS) dysfunction; there is no essential treatment. We generated a tyrosine-mutant adeno-associated virus (AAV) 9/3 vector that expresses human NPC1 under a cytomegalovirus (CMV) promoter (AAV-CMV-hNPC1) and injected it into the left lateral ventricle (5 μL) and cisterna magna (10 μL) of Npc1 homo-knockout (Npc1^-/-) mice. Each mouse received total 1.35 × 10

SUBMITTER: Kurokawa Y 

PROVIDER: S-EPMC8236559 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature