Cochlear gene therapy restores hearing and auditory processing in an atypical DFNB9 mouse model.

ABSTRACT:

Background

The autosomal recessive deafness 9 (DFNB9) is caused by mutations in the otoferlin gene that accounts for 2-8% of all inherited deafness cases. In a previous study, we demonstrated that Adeno-associated virus (AAV) gene therapy restored hearing in a preclinical mouse model of profound DFNB9 deafness caused by a frameshift mutation leading to a complete loss of otoferlin expression. However, it remains to be demonstrated that it can address the full spectrum of DFNB9 deafness severity, while also restoring central auditory processing essential for speech understanding.

Methods

Using homologous recombination in mouse embryonic stem cells, we created a knock-in mouse model carrying the E1799del otoferlin mutation, which mirrors the human E1804del variant linked to DF

SUBMITTER: Benamer N 

PROVIDER: S-EPMC12162826 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature