A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 Mice
Pedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna‐Sánchez, Massimo Zeviani, Carlo Viscomi
Abstract
mice led to a normalization of the body weight, marked amelioration of the rotarod performance, delayed onset of neurodegeneration, and prolongation of the lifespan up to 1 year of age. hNDUFS4 protein was expressed in virtually all brain regions, leading to a partial recovery of complex I activity. Our findings strongly support the feasibility and effectiveness of adeno-associated viral vector (AAV)-mediated gene therapy for mitochondrial disease, particularly with new serotypes showing increased permeability to the blood-brain barrier in order to achieve widespread expression in the central nervous system.
Topics & Concepts
PhenotypeMedicinePharmacologyChemistryGeneBiochemistryinterferon and immune responsesVirus-based gene therapy researchImmune cells in cancer