Connexins and Disease
Connexins and Disease
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DOI：
10.1101/cshperspect.a029348
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发表时间：
2018-09-01
影响因子：
7.2
通讯作者：
White, Thomas W.
中科院分区：
文献类型：
--
作者：
Delmar, Mario;Laird, Dale W.;White, Thomas W.
连接蛋白结构和功能的遗传或获得性改变长期以来一直与疾病有关。在目前的工作中，我们回顾了目前关于连接蛋白在心脏、神经系统、耳蜗和皮肤相关疾病以及癌症和多效综合征（如眼齿指发育不良（ODDD））中的作用的知识。虽然由于篇幅和范围的原因，本文的综述并不完整，但本文强调了连接蛋白的功能不仅与间隙连接通道的形成有关。因此，连接蛋白的规范和非规范功能是多种连接蛋白相关疾病病理生理学的基本组成部分，其中许多是高度衰弱和危及生命的。提高对连接蛋白生物学的理解有可能促进我们对疾病的机制、诊断和治疗的理解。
Inherited or acquired alterations in the structure and function of connexin proteins have long been associated with disease. In the present work, we review current knowledge on the role of connexins in diseases associated with the heart, nervous system, cochlea, and skin, as well as cancer and pleiotropic syndromes such as oculodentodigital dysplasia (ODDD). Although incomplete by virtue of space and the extent of the topic, this review emphasizes the fact that connexin function is not only associated with gap junction channel formation. As such, both canonical and noncanonical functions of connexins are fundamental components in the pathophysiology of multiple connexin related disorders, many of them highly debilitating and life threatening. Improved understanding of connexin biology has the potential to advance our understanding of mechanisms, diagnosis, and treatment of disease.