Connexins in hearing loss: a comprehensive overview.
Connexins are a family of transmembrane proteins that form gap junctions between adjacent cells and allow intercellular communication. Connexin proteins are involved in pathological conditions in humans, mainly in hearing loss, neurodegenerative disorders and skin diseases. The association between connexin proteins and the inner ear is well established. The abundant expression of connexins in the auditory system of the inner ear demonstrates their importance in inner ear development and the hearing process. Most compelling, there are over 100 mutations in genes encoding connexins that are associated with deafness. Most prominent is the remarkable involvement of connexin 26 in hearing loss. Mutations in the gene GJB2, encoding connexin 26, are responsible for around 50% of genetic cases of severe to profound non-syndromic hearing loss in some parts of the world. Learning more about the connexin family in general and about connexin 26 in particular can shed light on the pathogenesis of the inner ear and bring us closer to finding clinical solutions for the hearing impaired.
Sabag
Adi D
AD
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Dagan
Orit
O
Avraham
Karen B
KB
D000818:Animals; D000072259:Connexin 26; D017630:Connexins / Q000096:biosynthesis* / Q000235:genetics; D007758:Ear, Inner / Q000378:metabolism*; D017629:Gap Junctions / Q000378:metabolism; D034381:Hearing Loss / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D009154:Mutation
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26