title: Excitation-Contraction Coupling Alterations in Myopathies.
abstract: 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.
authors.affiliation: University Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, F-38000 Grenoble, France.|INSERM, U1216, F-38000 Grenoble, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Marty
authors.affiliation: University Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, F-38000 Grenoble, France.|INSERM, U1216, F-38000 Grenoble, France.|CHU de Grenoble, F-38000 Grenoble, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Fauré
mesh_terms: D002118:Calcium / Q000378:metabolism*; D056966:Excitation Contraction Coupling; D006801:Humans; D009046:Motor Neurons / Q000378:metabolism*; D009119:Muscle Contraction; D018485:Muscle Fibers, Skeletal / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009135:Muscular Diseases / Q000378:metabolism* / Q000503:physiopathology; D009210:Myofibrils / Q000378:metabolism*; D019837:Ryanodine Receptor Calcium Release Channel / Q000378:metabolism; D012519:Sarcoplasmic Reticulum / Q000378:metabolism*; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000378:metabolism
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; D002118:Calcium
keywords: DHPR; RyR1; calcium; congenital myopathies; sarcoplasmic reticulum; triad