GJB2基因的听觉功能和耳聋的分子生物学机制  

Hearing Function of GJB2 and Molecular Mechanism of Associated Deafness

作　　者：梁纯[1,2] 赵红波[2] 

机构地区：[1]深圳市宝安区妇幼保健院儿童保健科,广东省深圳市518133 [2]美国肯塔基州立大学医学中心耳鼻咽喉科列克星敦市,40536,美国

出　　处：《医学分子生物学杂志》2012年第4期309-312,共4页Journal of Medical Molecular Biology

基　　金：美国国家科研基金项目（No.USANIDCDDC05989）,深圳市宝安区科技计划项目（No.20110618）

摘　　要：缝隙连接在听觉功能中扮演了一个非常重要的角色。GJB2基因变异是一个导致～50％儿童单纯性耳聋的常见原因。此类基因变异产生的病理变化主要发生在耳蜗，然而听觉毛细胞上并无缝隙连接或GJB2基因的表达。文章总结了近年来内耳缝隙连接的研究进展，阐述了耳蜗缝隙连接对于听觉功能的重要性。同时也展望了因缝隙连接基因突变所致遗传性耳聋的治疗前景。Gap junction plays a crucial role in heating function. Connexin 26 （Cx26, GJB2） mutations are the most common cause of hereditary deafness and are responsible for over 50 % of nonsyndromic heating loss in children. The pathological changes of this common nonsyndromic hear- ing loss predominantly occur in the cochlear. However, the hair cells exhibit neither eonnexin ex- pression nor gap junctional coupling. This review focuses on the research advances in the gap junction of the inner ear, elucidates the importance of the gap junction to heating function and fur- ther provides the promising treatments for genetic deafness heating loss caused by the genetic muta- tion of gap junction.

关 键 词：缝隙连接 单纯性耳聋 

分 类 号：R339.16[医药卫生—人体生理学] R329.25[医药卫生—基础医学]