GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function.

ABSTRACT: Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic mechanisms leading to GJB2-related deafness are not well understood, and cures are absent. Humans with GJB2-related deafness retain at least some auditory hair cells and neurons, and their deafness is usually stable. In contrast, mice with conditional loss of Gjb2 in supporting cells exhibit extensive loss of hair cells and neurons and rapidly progress to profound deafness, precluding the application of therapies that require intact cochlear cells. In an attempt to design a less severe Gjb2 animal model, we generated mice with inducible Sox10iCre ^ERT2 -mediated l

SUBMITTER: Guo J 

PROVIDER: S-EPMC8531464 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature