[Physiopathology of calcium channels: identification of calcium channelopathies].
Since a few years, many mutations in genes encoding voltage-dependent ion channels have been identified. The related disorders are quoted as "channelopathies". These mutations are responsible for several skeletal muscle, brain, heart or kidney diseases. Abnormal calcium channels genes are responsible for hypokaleamic periodic paralysis (CACNA1S) as well as some forms of ataxia, cerebellar degeneration and migraine (CACNA1A). The preliminary studies of the recently discovered calcium channelopathies are undergoing. Both in vitro and in vivo studies of the diseased genes should help to the understanding of the related pathologies as well as to extend our knowledge of calcium channel function. In addition, autoantibodies against calcium channels are retrieved in some autoimmune diseases, such as Lambert-Eaton myasthenic syndrome (LEMS). Complementary studies are necessary to identify the precise implication of calcium channels in these auto-immune channelopathies.
Institut de Génétique Humaine, UPR 1142, CNRS, Montpellier. lory@xerxes.crbm.cnrs-mop.fr
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D001927:Brain Diseases / Q000235:genetics / Q000503:physiopathology; D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D006331:Heart Diseases / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics / Q000503:physiopathology; D008958:Models, Molecular; D009135:Muscular Diseases / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D011487:Protein Conformation
D015220:Calcium Channels
Physiopathologie des canaux calciques: identification des canalopathies calciques.