Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness

ABSTRACT: Genetic variants account for approximately half the cases of congenital and early-onset deafness. Methods and technologies for viral delivery of genes into the inner ear have evolved over the past decade to render gene therapy a viable and attractive approach for treatment. Variants in SYNE4, encoding the protein nesprin-4, a member of the Linker of Nucleoskeleton and Cytoskeleton (LINC), lead to DFNB76 human deafness. Syne4-/- mice have severe-to-profound progressive hearing loss and exhibit mislocalization of hair cell nuclei and hair cell degeneration. We used AAV9-PHP.B, a recently developed synthetic adeno associated virus, to deliver the coding sequence of Syne4 into the inner ears of neonatal Syne4-/- mice. Here we report rescue of hair cell morphology and survival, nearly complete

SUBMITTER: Mr. Shahar Taiber 

PROVIDER: S-SCDT-EMM-2020-13259 | biostudies-other |

REPOSITORIES: biostudies-other