Lory P, Nargeot J
Equipe Physiopathologie des Canaux Ioniques, Laboratoire de génomique fonctionnelle - CNRS UPR 2580, institut de génétique humaine, 141, rue de la Cardonille, 34094 Montpellier cedex 05, France.
Rev Neurol (Paris). 2004 May;160(5 Pt 2):S7-15. doi: 10.1016/s0035-3787(04)71000-0.
Understanding of the properties of normal and diseased voltage-dependent calcium channels has greatly improved these last Years after the extensive development of the patch-clamp and molecular biology studies and the functional expression strategies. The calcium channel diversity is based on the expression of numerous genes that encode pore channel subunits (10 genes) and auxiliary/regulatory subunits (16 genes). In addition, most of these genes are subject to alternative splicing. The study of calcium channels has also benefited from the discovery of genetic diseases linked to calcium channel mutations: the calcium channelopathies. The review describes the recent data and working hypothesis that address the challenging question of how the calcium channel diversity occurs and how alterations in channel function lead to selective cellular dysfunction.
在膜片钳、分子生物学研究以及功能表达策略得到广泛发展之后,近年来对正常和病变的电压依赖性钙通道特性的认识有了极大提高。钙通道的多样性基于众多编码孔道亚基(10个基因)和辅助/调节亚基(16个基因)的基因表达。此外,这些基因中的大多数都存在可变剪接。钙通道的研究还受益于与钙通道突变相关的遗传疾病的发现:即钙通道病。这篇综述描述了近期的数据和工作假设,这些数据和假设解决了关于钙通道多样性如何产生以及通道功能改变如何导致选择性细胞功能障碍这一具有挑战性的问题。