内毛细胞传入神经突触病变和遗传性听功能障碍  

作　　者：柳柯[1] 杨仕明[2] 

机构地区：[1]中国人民解放军耳鼻咽喉研究所,北京100853 [2]中国人民解放军总医院耳鼻咽喉头颈外科,北京100853

出　　处：《中国医学文摘（耳鼻咽喉科学）》2014年第5期291-293,共3页Chinese Medical Digest(Otorhinolaryngology)

摘　　要：近年来的研究表明,耳蜗内毛细胞传入神经突触(cochlear ribbon synapse)在听觉系统中发挥着十分关键的作用。本文介绍了OTOF,SLC17A8,Diaphanous homolog 3(DIAPH3)和SMAD4等目前研究比较深入的几个基因缺陷所导致的遗传性听功能障碍得分子病理机制。上述基因缺陷导致耳聋的一个共同机制是基因缺陷首先破坏了耳蜗内毛细胞传入神经突触的结构和功能。在表型上,这些基因缺陷动物共同表型出了听神经病的临床特征:脑干诱发电位(auditory brainstem respons,ABR)不能引出,畸变产物耳声发射(distortion product acoustic emission,DPOAE)和耳蜗电位(cochlear microphonics,CM)正常或基本正常。形态学研究证明了功能检测的结构及动物耳蜗毛细胞和突触后听神经的形态结构都是正常或基本正常的。对这些基因缺陷致聋机制的研究具有重要的临床价值,特别是对今后开展针对上述基因缺陷耳聋儿童的人工耳蜗植入治疗具有指导意义。Recent studies showed that cochlear ribbon synapse plays a critical role in hearing system. Several genes associated with inherent hearing loss which may contribute to the genetic deficits have been identified. The associated genes are OTOF, SLC17A8, Diaphanous homolog 3 （DIAPH3） , and SMAD4. The common molecular mechanism is the destruction of the structure and function of cochlear ribbon synapse caused by the genetic deficits above. Further, all the defects of the genes above can result in the phenotype of auditory neuropathy （AN） ： absence of ABR response coupling with normal or perserved DPOAE or/and CM response. The morphological study is consistent with the functional study, that is the animals with the associated gene deficits display normal hair outer and inner hair cells （OHCs and IHCs） , as well as normal postsynaptic spiral ganglion nerves （SGNs） . The studies associated with these genes above may have significant value for doctors in determining who could be suitable candidate for cochlear implant among the objects who carry the associated gene deficits.

关 键 词：耳蜗 听力丧失 基因 人工耳蜗植入 内毛细胞传入神经突触 听神经病 

分 类 号：R965[医药卫生—药理学]