GJB2突变相关的迟发性遗传性聋研究进展

Recent Research Progress on Late-onset Hereditary Hearing Loss Associated with GJB2 Gene Mutation

GJB2基因突变是引发非综合征型遗传性聋最常见的原因之一。GJB2编码缝隙连接蛋白26(Connexin26,Cx26),其表达在来源于外胚层的皮肤和耳蜗中。不同于以往的共识:GJB2基因突变导致先天性听力损失,近年来的分子遗传学研究发现GJB2基因突变也导致迟发性、渐进性听力损失。且听力损失常开始于高频,然后累及中、低频范围。本文旨在综述GJB2基因突变相关迟发性遗传性聋研究进展,进一步推动探索GJB2基因突变致聋机制研究与治疗措施更新。

GJB2 mutation is one of the most common causes of non-syndromic hereditary hearing loss(NSHL).GJB2 is expressed in ectoderm-derived tissues,such as the skin and cochlea,encoding a gap junction protein(Connexin26,Cx26).It is previously believed that all types of GJB2 mutation lead to congenital early-onset hearing loss.However,recent molecular genetics studies have found that some types of GJB2 mutation are actually related to late-onset and progressive hearing loss.Furthermore,the latter findings have also revealed that hearing loss can start at high frequencies and gradually extend to the middle-and low-frequency range.The current review will summarize research progresses on late-onset hereditary hearing loss caused by GJB2 mutations,so as to further promote research on its pathological mechanisms and to develop new treatments.