Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function

Wangemann P.

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Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function

机译：与Pendrin相关的耳蜗和前庭功能丧失的小鼠模型

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The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin, which is an anion exchanger expressed in apical membranes of selected epithelia. In the inner ear, pendrin is expressed in the cochlea, the vestibular labyrinth and the endolymphatic sac. Loss-of-function and hypo-functional mutations cause an enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss. The relatively high prevalence of SLC26A4 mutations provides a strong imperative to develop rational interventions that delay, ameliorate or prevent pendrin-associated loss of cochlear and vestibular function. This review summarizes recent studies in mouse models that have been developed to delineate the role of pendrin in the physiology of hearing and balance and that have brought forward the concept that a temporally and spatially limited therapy may be sufficient to secure a life-time of normal hearing in children bearing mutations of SLC26A4.

机译：人类基因SLC26A4和小鼠直系同源物Slc26a4编码pendrin蛋白，该蛋白是在所选上皮的顶膜中表达的阴离子交换剂。在内耳中，在耳蜗，前庭迷宫和内淋巴囊中均表达有Pendrin。功能丧失和功能低下的突变导致前庭导水管（EVA）增大和感觉神经性听力损失。 SLC26A4突变的相对较高的流行率提供了开发合理的干预措施的强烈要求，这些干预措施可以延迟，改善或预防与Pendrin相关的耳蜗和前庭功能丧失。这篇综述总结了最近在小鼠模型中的研究，这些研究已被描述以描述Pendrin在听觉和平衡生理中的作用，并提出了时间和空间受限疗法可能足以确保正常生命的概念。携带SLC26A4突变的儿童的听力障碍。

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《Cellular Physiology and Biochemistry》 |2013年第7期|共9页
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Wangemann P.;
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中图分类细胞生物物理学;
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6. Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function [O] . Philine Wangemann -1

机译：与Pendrin相关的耳蜗和前庭功能丧失的小鼠模型
7. Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function [O] . Philine Wangemann 2013

机译：pendrin相关的耳蜗和前庭功能丧失的小鼠模型

Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function

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