Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.

ABSTRACT: Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital profound deafness and balance disorders. These mice lack the scaffold protein sans, which is involved both in the morphogenesis of the stereociliary bundle, the sensory antenna of inner ear hair cells, and in the mechanoelectrical transduction process. We show that a single delivery of the sans cDNA by the adenoassociated virus 8 to the inner ear of newborn mutant mice reestablishes the expression and targeting of the protein to the tips of stereocilia. The thera

SUBMITTER: Emptoz A 

PROVIDER: S-EPMC5594693 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature