The Dorothy M. Davis Heart & Lung Research Institute.
Annu Rev Physiol. 2015;77:505-24. doi: 10.1146/annurev-physiol-021014-071838. Epub 2014 Sep 25.
Channelopathies are a diverse set of disorders associated with defects in ion channel (and transporter) function. Although the vast majority of channelopathies are linked with inherited mutations that alter ion channel biophysical properties, another group of similar disorders has emerged that alter ion channel synthesis, membrane trafficking, and/or posttranslational modifications. In fact, some electrical and episodic disorders have now been identified that are not defects in the ion channel but instead reflect dysfunction in an ion channel (or transporter) regulatory protein. This review focuses on alternative paradigms for physiological disorders associated with protein biosynthesis, folding, trafficking, and membrane retention. Furthermore, the review highlights the role of aberrant posttranslational modifications in acquired channelopathies.
通道病是一组与离子通道（和转运蛋白）功能缺陷相关的多种疾病。尽管绝大多数通道病与改变离子通道生物物理特性的遗传性突变有关，但另一组类似的疾病已经出现，这些疾病改变了离子通道的合成、膜运输和/或翻译后修饰。事实上，现在已经确定了一些电和发作性疾病，它们不是离子通道的缺陷，而是反映了离子通道（或转运蛋白）调节蛋白的功能障碍。本综述重点介绍了与蛋白质生物合成、折叠、运输和膜保留相关的生理疾病的替代模式。此外，该综述还强调了翻译后修饰异常在获得性通道病中的作用。
