Hearing loss: a common disorder caused by many rare alleles
Hearing loss: a common disorder caused by many rare alleles
复制标题
DOI：
10.1111/j.1749-6632.2010.05868.x
复制
发表时间：
2010-01-01
期刊：
影响因子：
--
通讯作者：
Avraham, Karen B.
中科院分区：
文献类型：
--
作者：
Raviv, Dorith;Dror, Amiel A.;Avraham, Karen B.
声音的感知是听觉系统的基本作用。声波凭借机械能的力量传播，被耳朵捕获并激活这个复杂器官的感觉通路。毛细胞是内耳内的特殊感觉细胞，将机械能传输到到达大脑的电神经刺激。大量蛋白质负责维持声音感觉的复杂机制所需的总体任务。许多听力障碍是由于以孟德尔方式遗传的单基因缺陷造成的，因此可以进行临床诊断。然而，与此同时，听力障碍具有遗传异质性，常见和罕见的听力障碍都是由于 100 多个基因的突变造成的。人类和小鼠遗传学之间的串扰使得利用动物模型提供的工具对基因鉴定和蛋白质功能进行全面研究成为可能。以下综述的目的是提供人类耳聋基因的背景和例子以及它们在听觉系统中的功能的发现。
Perception of sound is a fundamental role of the auditory system. Traveling with the force of their mechanical energy, sound waves are captured by the ear and activate the sensory pathway of this complex organ. The hair cells, specialized sensory cells within the inner ear, transmit the mechanical energy into electrical nerve stimuli that reach the brain. A large number of proteins are responsible for the overarching tasks required to maintain the complex mechanism of sound sensation. Many hearing disorders are due to single gene defects inherited in a Mendelian fashion, thus enabling clinical diagnostics. However, at the same time, hearing impairment is genetically heterogeneous, with both common and rare forms occurring due to mutations in over 100 genes. The crosstalk between human and mouse genetics has enabled comprehensive studies on gene identification and protein function, taking advantage of the tools animal models have to offer. The aim of the following review is to provide background and examples of human deafness genes and the discovery of their function in the auditory system.