Eisen M D, Ryugo D K
Department of Otolaryngology-Head and Neck Surgery, Center for Hearing and Balance, Baltimore, Maryland 21205, USA.
Cell Mol Life Sci. 2007 Mar;64(5):566-80. doi: 10.1007/s00018-007-6417-3.
Considerable progress has been made over the past decade identifying many genes associated with deafness. With the identification of these hereditary deafness genes and the proteins they encode, molecular elements of basic hearing mechanisms emerge. As functional studies of these molecular elements become available, we can put together the pieces of the puzzle and begin to reach an understanding of the molecular mechanisms of hearing. The goal of this review is to discuss studies over the past decade that address the function of the proteins implicated in genetic deafness and to place them in the context of basic molecular mechanisms in hearing. The first part of this review highlights structural and functional features of the cochlea and auditory nerve. This background will provide a context for the second part, which addresses the molecular mechanisms underlying cochlear function as elucidated by genetic causes of deafness.
在过去十年中,在识别许多与耳聋相关的基因方面取得了相当大的进展。随着这些遗传性耳聋基因及其编码的蛋白质的鉴定,基本听力机制的分子成分逐渐显现出来。随着对这些分子成分的功能研究不断涌现,我们可以拼凑出难题的各个部分,并开始理解听力的分子机制。本综述的目的是讨论过去十年中涉及遗传性耳聋相关蛋白质功能的研究,并将它们置于听力基本分子机制的背景下。本综述的第一部分重点介绍了耳蜗和听神经的结构和功能特征。这一背景将为第二部分提供一个背景,第二部分将探讨由耳聋的遗传原因所阐明的耳蜗功能的分子机制。