The Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York 10016.
Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario N6A5C1, Canada.
Cold Spring Harb Perspect Biol. 2018 Sep 4;10(9):a029348. doi: 10.1101/cshperspect.a029348.
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.
连接蛋白结构和功能的遗传或获得性改变与疾病长期相关。在本工作中，我们综述了连接蛋白在与心脏、神经系统、耳蜗和皮肤相关的疾病以及癌症和多效性综合征（如眼-牙-指发育不良（ODDD））中的作用的最新知识。尽管由于篇幅和主题的广度限制，本综述强调了连接蛋白功能不仅与缝隙连接通道形成有关这一事实。因此，连接蛋白的经典和非经典功能都是多种连接蛋白相关疾病病理生理学的基本组成部分，其中许多疾病具有高度致残性和威胁生命。对连接蛋白生物学的深入了解有可能促进我们对疾病机制、诊断和治疗的理解。
