SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice
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SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice
Mutations of SLC26A4 are a common cause of human hearing loss associated with enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in a variety of epithelial cells in the cochlea, the vestibular labyrinth and the endolymphatic sac. Slc26a4 (Δ/Δ) mice are devoid of pendrin and develop a severe enlargement of the membranous labyrinth, fail to acquire heari...
متن کاملEndolymphatic Na+ and K+ Concentrations during Cochlear Growth and Enlargement in Mice Lacking Slc26a4/pendrin
Slc26a4 (Δ/Δ) mice are deaf, develop an enlarged membranous labyrinth, and thereby largely resemble the human phenotype where mutations of SLC26A4 cause an enlarged vestibular aqueduct and sensorineural hearing loss. The enlargement is likely caused by abnormal ion and fluid transport during the time of embryonic development, however, neither the mechanisms of ion transport nor the ionic compos...
متن کاملRESTORING HEARING AND BALANCE IN A MOUSE MODEL OF SLC26A4 - RELATED DEAFNESS By
Mutations of SLC26A4 are the most common cause of the hearing loss associated with enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in the cochlea, the vestibular labyrinth, and the endolymphatic sac of the inner ear. Slc26a4 mice, devoid of pendrin expression, develop an enlarged membranous labyrinth which leads to the failure to develop hearing, th...
متن کاملFailure of Fluid Absorption in the Endolymphatic Sac Initiates Cochlear Enlargement that Leads to Deafness in Mice Lacking Pendrin Expression
Mutations of SLC26A4 are among the most prevalent causes of hereditary deafness. Deafness in the corresponding mouse model, Slc26a4(-/-), results from an abnormally enlarged cochlear lumen. The goal of this study was to determine whether the cochlear enlargement originates with defective cochlear fluid transport or with a malfunction of fluid transport in the connected compartments, which are t...
متن کاملEarly deterioration of residual hearing in patients with SLC26A4 mutations.
OBJECTIVES/HYPOTHESIS To compare changes in hearing in patients with SLC26A4 during early and late childhood. STUDY DESIGN Retrospective chart review. METHODS A total of 102 patients with biallelic SLC26A4 mutations visited the tertiary referral otolaryngology department between March 2005 and February 2015. Newborn hearing screening tests had been performed on 22 of these patients. We anal...
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ژورنال
عنوان ژورنال: PLoS Genetics
سال: 2013
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1003641