Bidaud Isabelle, Mezghrani Alexandre, Swayne Leigh Anne, Monteil Arnaud, Lory Philippe
Département de Physiologie, Institut de Génomique Fonctionnelle (IGF), CNRS UMR 5203--INSERM U661, Universités de Montpellier I and II, 141 rue de la Cardonille, 34094 Montpellier cedex 05, France.
Biochim Biophys Acta. 2006 Nov;1763(11):1169-74. doi: 10.1016/j.bbamcr.2006.08.049. Epub 2006 Sep 5.
Voltage-gated calcium channels (VGCCs) mediate calcium entry into excitable cells in response to membrane depolarization. During the past decade, our understanding of the gating and functions of VGCCs has been illuminated by the analysis of mutations linked to a heterogeneous group of genetic diseases called "calcium channelopathies". Calcium channelopathies include muscular, neurological, cardiac and vision syndromes. Recent data suggest that calcium channelopathies result not only from electrophysiological defects but also from altered alpha(1)/Ca(V) subunit protein processing, including folding, posttranslational modifications, quality control and trafficking abnormalities. Overall, functional analyses of VGCC mutations provide a more comprehensive view of the corresponding human disorders and offer important new insights into VGCC function. Ultimately, the understanding of these pathogenic channel mutations should lead to improved treatments of such hereditary diseases in humans.
电压门控性钙通道（VGCCs）介导钙在膜去极化时进入可兴奋细胞。在过去十年中，通过对与一组称为“钙通道病”的异质性遗传疾病相关的突变进行分析，我们对VGCCs的门控和功能有了更深入的了解。钙通道病包括肌肉、神经、心脏和视觉综合征。最近的数据表明，钙通道病不仅源于电生理缺陷，还源于α(1)/Ca(V)亚基蛋白质加工的改变，包括折叠、翻译后修饰、质量控制和运输异常。总体而言，对VGCC突变的功能分析为相应的人类疾病提供了更全面的认识，并为VGCC功能提供了重要的新见解。最终，对这些致病通道突变的理解应能改善人类此类遗传病的治疗。
