University Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, F-38000 Grenoble, France.
INSERM, U1216, F-38000 Grenoble, France.
J Neuromuscul Dis. 2016 Nov 29;3(4):443-453. doi: 10.3233/JND-160172.
During the complex series of events leading to muscle contraction, the initial electric signal coming from motor neurons is transformed into an increase in calcium concentration that triggers sliding of myofibrils. This process, referred to as excitation-contraction coupling, is reliant upon the calcium-release complex, which is restricted spatially to a sub-compartment of muscle cells ("the triad") and regulated precisely. Any dysfunction in the calcium-release complex leads to muscle impairment and myopathy. Various causes can lead to alterations in excitation-contraction coupling and to muscle diseases. The latter are reviewed and classified into four categories: (i) mutation in a protein of the calcium-release complex; (ii) alteration in triad structure; (iii) modification of regulation of channels; (iv) modification in calcium stores within the muscle. Current knowledge of the pathophysiologic mechanisms in each category is described and discussed.
在导致肌肉收缩的复杂系列事件中，来自运动神经元的初始电信号转化为钙离子浓度的增加，从而触发肌原纤维的滑动。这个过程被称为兴奋-收缩耦联，依赖于钙离子释放复合物，该复合物在空间上局限于肌肉细胞的一个亚区（“三联体”）并受到精确调节。钙离子释放复合物的任何功能障碍都会导致肌肉损伤和肌病。各种原因可导致兴奋-收缩耦联的改变和肌肉疾病。本文对后者进行了综述和分类：（i）钙离子释放复合物蛋白的突变；（ii）三联体结构的改变；（iii）通道调节的修饰；（iv）肌肉内钙储存的改变。描述和讨论了每个类别中病理生理机制的当前知识。
