Kotsias B A
Laboratorio de Neurofisiología, Instituto de Investigaciones Médicas Alfredo Lanari, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
Medicina (B Aires). 1997;57(5):617-28.
This review illustrates several hereditary diseases caused by mutations in genes which encode various ion channels activated by voltage or neurotransmitters. Many physiological processes depend upon the proper functioning of plasma membrane ion channels and this is most apparent in absorptive and secretory epithelia, and in electrically excitable tissues such as nerve and muscle. By combining the information from electrophysiological recordings with molecular biological techniques, further insight can be gained into the gene expression and protein structure of ionic channels. This combination has resulted in a structure-function analysis revealing the molecular substructures of the ionic channels responsible for the processes of permeation and selectivity of activation and inactivation and different types of block. Using molecular biologic tools, these abnormal channels can be identified and their molecular defects defined. Advances in these areas now provide the basis for a rational approach to the classification and treatment of these disorders of membrane excitation.
本综述阐述了由编码各种电压或神经递质激活的离子通道的基因突变引起的几种遗传性疾病。许多生理过程依赖于质膜离子通道的正常功能，这在吸收性和分泌性上皮组织以及神经和肌肉等电可兴奋组织中最为明显。通过将电生理记录信息与分子生物学技术相结合，可以进一步深入了解离子通道的基因表达和蛋白质结构。这种结合导致了一种结构-功能分析，揭示了负责渗透、激活和失活选择性以及不同类型阻断过程的离子通道的分子亚结构。使用分子生物学工具，可以识别这些异常通道并确定其分子缺陷。这些领域的进展现在为合理分类和治疗这些膜兴奋障碍提供了基础。
