Regulatory mechanisms of connexin26

Abstract

Connexins are essential for cellular communication and play a critical role in various physiological processes, including hearing. Connexin26 (Cx26), encoded by the GJB2 gene, is a key component of cochlear gap junctions and is vital for potassium recycling and ATP release-both of which are vital for auditory function. Mutations in GJB2 are the primary cause of sensorineural hearing loss. However, the phenotypic variability observed in individuals with the same mutation suggests the involvement of other complex regulatory factors. While the regulatory mechanisms of Connexin43 have been extensively studied, research on the mechanisms of Cx26 remains limited. This review summarizes the reported regulatory mechanisms of GJB2 from multiple perspectives, both pre- and post-transcription, in an effort to explore ways to regulate connexin expression and provide new insights into gene therapy for diseases caused by alterations in connexin levels.

Keywords: Connexins; GJB2; Gene regulation; Modifier gene.