Cdh23 affects congenital hearing loss through regulating purine metabolism.

ABSTRACT:

Introduction

The pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness is still largely unknown.

Methods

In this study, a congenital deafness family, whole exome sequencing revealed a new mutation in the pathogenic gene CDH23, subsequently; the mutation has been validated using Sanger sequencing method. Then CRISPR/Cas9 technology was employed to knockout zebrafish cdh23 gene. Startle response experiment was used to compare with wide-type, the response to sound stimulation between wide-type and cdh23^-/-. To further illustrate the molecular mechanisms underlying congen

SUBMITTER: Yang S 

PROVIDER: S-EPMC10416109 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature