201. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
- Author
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Mathur P and Yang J
- Subjects
- Humans, Retinal Degeneration genetics, Retinal Degeneration metabolism, Retinal Degeneration pathology, Genetic Loci, Hair Cells, Auditory, Inner metabolism, Hair Cells, Auditory, Inner ultrastructure, Multiprotein Complexes genetics, Multiprotein Complexes metabolism, Retina metabolism, Retina ultrastructure, Usher Syndromes genetics, Usher Syndromes metabolism, Usher Syndromes pathology
- Abstract
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in the occurrence of USH and atypical USH. Among them, twelve have been identified as causative genes and one as a modifier gene. Studies on the proteins encoded by these USH genes suggest that USH proteins interact among one another and function in multiprotein complexes in vivo. Although their exact functions remain enigmatic in the retina, USH proteins are required for the development, maintenance and function of hair bundles, which are the primary mechanosensitive structure of inner ear hair cells. Despite the unavailability of a cure, progress has been made to develop effective treatments for this disease. In this review, we focus on the most recent discoveries in the field with an emphasis on USH genes, protein complexes and functions in various tissues as well as progress toward therapeutic development for USH., (Copyright © 2014 Elsevier B.V. All rights reserved.)
- Published
- 2015
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