c-Ret-mediated hearing losses

International Journal of Clinical and Experimental Pathology

Nobutaka Ohgami¹ 

关键词: c-Ret;    congenital deafness;    age-related deafness;    tyrosine kinase;    spiral ganglion neuron;    neurodegeneration;   

DOI  :  

学科分类：生理学与病理学

来源: e-Century Publishing Corporation

【 摘 要 】

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.

【 授权许可】

CC BY-NC