抄録
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.
本文言語 | 英語 |
---|---|
ページ(範囲) | 23-28 |
ページ数 | 6 |
ジャーナル | International Journal of Clinical and Experimental Pathology |
巻 | 5 |
号 | 1 |
出版ステータス | 出版済み - 2012 |
外部発表 | はい |
All Science Journal Classification (ASJC) codes
- 病理学および法医学
- 組織学