Mechanisms of congenital hearing loss caused by GJB2 gene mutations and current progress in gene therapy

Abstract

GJB2 gene is a common pathogenic gene for non-syndromic hearing loss, located on chromosome 13q12.11, and primarily encodes connexin 26 (Cx26). Cx26, a member of the gap-junction protein family, is mainly expressed in the supporting cells of the cochlea, where it is responsible for intercellular material transfer and signal exchange. Gene therapy, a treatment method that repairs or reconstructs genetic material, has emerged as the most effective approach for hereditary hearing loss. During the initial stages of exploration, researchers need to conduct animal experiments first. By elucidating the mechanisms of GJB2 gene-induced congenital hearing loss, we summarize the commonly used experimental animals (zebrafish, mice) for current research on the Gjb2 gene, and further promote the advancement of gene therapy strategies.