Keating M T, Sanguinetti M C
Howard Hughes Medical Institute, University of Utah, Salt Lake City, 84112, USA.
Science. 1996 May 3;272(5262):681-5. doi: 10.1126/science.272.5262.681.
The recent application of molecular genetic tools to inherited forms of cardiovascular disease has provided important insight into the molecular mechanisms underlying cardiac arrhythmias, cardiomyopathies, and vascular diseases. These studies point to defects in ion channels, contractile proteins, structural proteins, and signaling molecules as key players in disease pathogenesis. Genetic testing is now available for a subset of inherited cardiovascular diseases, and new mechanism-based therapies may be available in the near future. This remarkable progress and the implications it may have for more common forms of cardiovascular disease are reviewed here.
分子遗传学工具最近在遗传性心血管疾病中的应用,为深入了解心律失常、心肌病和血管疾病背后的分子机制提供了重要线索。这些研究表明,离子通道、收缩蛋白、结构蛋白和信号分子的缺陷是疾病发病机制中的关键因素。目前,针对一部分遗传性心血管疾病已经可以进行基因检测,基于新机制的治疗方法可能在不久的将来问世。本文将对这一显著进展及其对更常见心血管疾病形式可能产生的影响进行综述。