title: Mouse models for pendrin-associated loss of cochlear and vestibular function.
abstract: The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin, which is an anion exchanger expressed in apical membranes of selected epithelia. In the inner ear, pendrin is expressed in the cochlea, the vestibular labyrinth and the endolymphatic sac. Loss-of-function and hypo-functional mutations cause an enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss. The relatively high prevalence of SLC26A4 mutations provides a strong imperative to develop rational interventions that delay, ameliorate or prevent pendrin-associated loss of cochlear and vestibular function. This review summarizes recent studies in mouse models that have been developed to delineate the role of pendrin in the physiology of hearing and balance and that have brought forward the concept that a temporally and spatially limited therapy may be sufficient to secure a life-time of normal hearing in children bearing mutations of SLC26A4.
authors.affiliation: Anatomy & Physiology Department, Kansas State University, Manhattan, Kansas, USA.
authors.forename: Philine
authors.initials: P
authors.lastname: Wangemann
mesh_terms: D000818:Animals; D027321:Anion Transport Proteins / Q000235:genetics / Q000378:metabolism*; D003051:Cochlea / Q000378:metabolism* / Q000473:pathology; D015834:Cochlear Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D000076988:Sulfate Transporters; D015837:Vestibular Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D014724:Vestibular Function Tests
chemical_list: D027321:Anion Transport Proteins; C494849:Slc26a4 protein, mouse; D000076988:Sulfate Transporters