Inherited connexin mutations associated with hearing loss.
One of the most dramatic discoveries in the field of hereditary hearing loss is the association of this sensory defect with connexin mutations. Most significant is the large proportion, 30-50%, of inherited hearing loss that is due to mutations in connexin 26. The proteins these genes encode are expressed in the cochlear duct, in regions containing gap junctions. Together, these findings suggest a crucial role for gap junction proteins in the mammalian inner ear. Mouse models with specific connexin mutations leading to deafness will help resolve the many questions regarding the role of these gap junction proteins in the inner ear.
Avraham
K B
KB
Department of Human Genetics & Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
D000818:Animals; D002877:Chromosomes, Human; D003051:Cochlea / Q000033:anatomy & histology; D000072259:Connexin 26; D017630:Connexins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017629:Gap Junctions / Q000737:chemistry / Q000378:metabolism; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D051379:Mice; D009154:Mutation; D017433:Protein Structure, Secondary
D017630:Connexins; C000607043:Gjb2 protein, mouse; D000072259:Connexin 26