Lory P, Monteil A
Institut de Génétique Humaine, UPR 1142, CNRS, Montpellier.
C R Seances Soc Biol Fil. 1998;192(1):137-47.
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.
近年来，许多编码电压依赖性离子通道的基因突变已被识别。相关疾病被称为“离子通道病”。这些突变是多种骨骼肌、脑、心脏或肾脏疾病的病因。异常的钙通道基因可导致低钾性周期性麻痹（CACNA1S）以及某些形式的共济失调、小脑变性和偏头痛（CACNA1A）。对最近发现的钙通道病的初步研究正在进行。对患病基因的体外和体内研究都将有助于理解相关病理状况，并拓展我们对钙通道功能的认识。此外，在一些自身免疫性疾病中，如兰伯特-伊顿肌无力综合征（LEMS），可检测到针对钙通道的自身抗体。需要进行补充研究以确定钙通道在这些自身免疫性离子通道病中的具体作用。
