电压感受器突变与骨骼肌通道病。

Voltage-sensor mutations in channelopathies of skeletal muscle.

机构信息

Department of Neurology and Program in Neuroscience, 5323 Harry Hines Blvd, UT Southwestern Medical Center, Dallas, TX 75390-8813, USA.

出版信息

J Physiol. 2010 Jun 1;588(Pt 11):1887-95. doi: 10.1113/jphysiol.2010.186874. Epub 2010 Feb 15.

Abstract

Mutations of voltage-gated ion channels cause several channelopathies of skeletal muscle, which present clinically with myotonia, periodic paralysis, or a combination of both. Expression studies have revealed both loss-of-function and gain-of-function defects for the currents passed by mutant channels. In many cases, these functional changes could be mechanistically linked to the defects of fibre excitability underlying myotonia or periodic paralysis. One remaining enigma was the basis for depolarization-induced weakness in hypokalaemic periodic paralysis (HypoPP) arising from mutations in either sodium or calcium channels. Curiously, 14 of 15 HypoPP mutations are at arginines in S4 voltage sensors, and recent observations show that these substitutions support an alternative pathway for ion conduction, the gating pore, that may be the source of the aberrant depolarization during an attack of paralysis.

摘要

电压门控离子通道的突变导致几种骨骼肌通道病,临床上表现为肌强直、周期性瘫痪或两者兼有。表达研究揭示了突变通道所传导的电流既有功能丧失也有功能获得的缺陷。在许多情况下,这些功能变化可能与肌强直或周期性瘫痪所涉及的纤维兴奋性缺陷在机制上相关。一个遗留的谜团是低钾周期性瘫痪(HypoPP)中由钠或钙通道突变引起的去极化诱导的无力的基础。奇怪的是,HypoPP 的 15 个突变中有 14 个位于 S4 电压传感器的精氨酸,最近的观察表明这些取代支持离子传导的替代途径,即门控孔,这可能是瘫痪发作期间异常去极化的来源。

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