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听力障碍:基因与功能的全景图。

Hearing impairment: a panoply of genes and functions.

机构信息

Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Neuron. 2010 Oct 21;68(2):293-308. doi: 10.1016/j.neuron.2010.10.011.

Abstract

Research in the genetics of hearing and deafness has evolved rapidly over the past years, providing the molecular foundation for different aspects of the mechanism of hearing. Considered to be the most common sensory disorder, hearing impairment is genetically heterogeneous. The multitude of genes affected encode proteins associated with many different functions, encompassing overarching areas of research. These include, but are not limited to, developmental biology, cell biology, physiology, and neurobiology. In this review, we discuss the broad categories of genes involved in hearing and deafness. Particular attention is paid to a subgroup of genes associated with inner ear gene regulation, fluid homeostasis, junctional complex and tight junctions, synaptic transmission, and auditory pathways. Overall, studies in genetics have provided research scientists and clinicians with insight regarding practical implications for the hearing impaired, while heralding hope for future development of therapeutics.

摘要

在过去的几年中,听力和耳聋遗传学的研究迅速发展,为听力机制的不同方面提供了分子基础。听力障碍被认为是最常见的感觉障碍,其具有遗传异质性。受影响的众多基因编码与许多不同功能相关的蛋白质,涵盖了广泛的研究领域。这些领域包括但不限于发育生物学、细胞生物学、生理学和神经生物学。在这篇综述中,我们讨论了参与听力和耳聋的广泛类别基因。特别关注与内耳基因调控、液稳态、连接复合体和紧密连接、突触传递以及听觉通路相关的基因亚组。总的来说,遗传学研究为研究科学家和临床医生提供了有关听力障碍的实际影响的见解,同时为未来治疗药物的开发带来了希望。

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