| Literature DB >> 22295143 |
Nobutaka Ohgami1, Haruka Tamura, Kyoko Ohgami, Machiko Iida, Ichiro Yajima, Mayuko Y Kumasaka, Yuji Goto, Michihiko Sone, Tsutomu Nakashima, Masashi Kato.
Abstract
About 120 million people worldwide suffer from congenital (early-onset) hearing loss. Thirty percent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing loss. In addition, a large number of elderly people worldwide suffer from age-related (late-onset) hearing loss. c-Ret and c-RET have been shown to be essential for the development and maintenance of neurons including the enteric nervous system (ENS) in mice and humans. Impairments of endothelin receptor B (EDNRB) and SOX10 have been shown to cause a significantly increased risk of dominant sensorineural deafness in Hirschsprung disease (HSCR) patients. We have recently shown that impairments of tyrosine 1062 (Y1062) phosphorylation in c-Ret causes syndromic congenital deafness in mice and humans and non-syndromic age-related hearing loss with neurodegeneration of spiral ganglion neurons (SGNs) in mice. This review focuses on the pathogenesis of hearing loss caused by impairments of c-Ret.Entities:
Keywords: age-related deafness; c-Ret; congenital deafness; neurodegeneration; spiral ganglion neuron; tyrosine kinase
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Year: 2012 PMID： 22295143 PMCID： PMC3267482
Source DB: PubMed Journal: Int J Clin Exp Pathol ISSN： 1936-2625