Are MYO1C and MYO1F associated with hearing loss?
Are MYO1C and MYO1F associated with hearing loss?
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DOI：
10.1016/j.bbadis.2008.10.017
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发表时间：
2009-01-01
影响因子：
6.2
通讯作者：
Carella, Massimo
中科院分区：
文献类型：
--
作者：
Zadro, Cristina;Alemanno, Maria Stella;Carella, Massimo
肌球蛋白在听力损失发病机制中的作用是公认的：到目前为止，5个编码非常规肌球蛋白的基因和2个编码非肌肉常规肌球蛋白的基因被描述为正常听觉功能所必需的基因，以及这些基因中与听力障碍相关的突变。为了更好地了解这个基因家族的作用，我们对两个候选基因MYO1C和MYO1F进行了突变筛查，分析了数百名来自不同欧洲国家的双侧感音神经性耳聋患者。这项研究活动导致在MYO1C中发现了6个杂合性错义突变，在MYO1F中又发现了5个杂合性错义突变。同源模型表明，这些突变中的一些可能会对ATP结合位点的结构产生潜在影响，并可能影响两个肌球蛋白的ATPase活性或肌动蛋白结合过程。本研究提示上述肌球蛋白基因在听力损失发病机制中的作用。(C)2008爱思唯尔B.V.保留所有权利。
The role of myosins in the pathogenesis of hearing loss is well established: five genes encoding unconventional myosins and two genes encoding nonmuscle conventional myosins have so far been described to be essential for normal auditory function and mutations in these genes associated with hearing impairment. To better understand the role of this gene family we performed a mutational screening on two candidate genes, MYO1C and MYO1F analyzing hundreds of patients, affected by bilateral sensorineural hearing loss and coming from different European countries. This research activity led to the identification of 6 heterozygous missense mutations in MYO1C and additional 5 heterozygous missense mutations in MYO1F. Homology modelling suggests that some of these mutations could have a potential influence on the structure of the ATP binding site and could probably affect the ATPase activity or the actin binding process of both myosins. This study suggests a role of the above mentioned myosin genes in the pathogenesis of hearing loss. (C) 2008 Elsevier B.V. All rights reserved.