title: Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
abstract: The skeletal muscle ryanodine receptor is an intracellular calcium release channel which plays a central role in excitation contraction coupling. At least 80 mutations have been identified in the gene encoding the skeletal muscle ryanodine receptor and linked to several neuromuscular disorders, whose common feature appears to be a dysregulation of calcium homeostasis. A decade of research into the functional consequences of how these mutations affect the functional properties of the ryanodine receptor and their impact on disease, have significantly advanced our understanding of Malignant Hyperthermia, Central Core Disease and Multiminicore Disease. This review gives an overview of the important findings in the field of calcium homeostasis in skeletal muscle and describes how mutations in the ryanodine receptor gene might affect the function of this intracellular calcium release channel and lead to neuromuscular disorders.
authors.affiliation: Dipartimento di Medicina Sperimentale e Diagnostica, sezione Patologia Generale, Università degli Studi di Ferrara, Via Borsari 46, 44100 Ferrara, Italy.
authors.forename: Susan
authors.initials: S
authors.lastname: Treves
authors.forename: Ayuk A
authors.initials: AA
authors.lastname: Anderson
authors.forename: Sylvie
authors.initials: S
authors.lastname: Ducreux
authors.forename: Alexandra
authors.initials: A
authors.lastname: Divet
authors.forename: Christophe
authors.initials: C
authors.lastname: Bleunven
authors.forename: Cristiano
authors.initials: C
authors.lastname: Grasso
authors.forename: Silvia
authors.initials: S
authors.lastname: Paesante
authors.forename: Francesco
authors.initials: F
authors.lastname: Zorzato
mesh_terms: D002118:Calcium / Q000502:physiology; D002493:Central Nervous System Diseases / Q000235:genetics; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium