Marbán Eduardo
Institute of Molecular Cardiobiology, The Johns Hopkis University, Baltimore, MD 21205, USA.
Nature. 2002 Jan 10;415(6868):213-8. doi: 10.1038/415213a.
Genetic alterations of various ion channels produce heritable cardiac arrhythmias that predispose affected individuals to sudden death. The investigation of such 'channelopathies' continues to yield remarkable insights into the molecular basis of cardiac excitability. The concept of channelopathies is not restricted to genetic disorders; notably, changes in the expression or post-translational modification of ion channels underlie the fatal arrhythmias associated with heart failure. Recognizing the fundamental defects in channelopathies provides the basis for new strategies of treatment, including tailored pharmacotherapy and gene therapy.
各种离子通道的基因改变会导致遗传性心律失常,使受影响的个体易发生猝死。对这类“通道病”的研究不断为心脏兴奋性的分子基础带来显著的见解。通道病的概念并不局限于遗传疾病;值得注意的是,离子通道表达或翻译后修饰的变化是心力衰竭相关致命心律失常的基础。认识到通道病的根本缺陷为新的治疗策略提供了基础,包括量身定制的药物治疗和基因治疗。