Wang Shouyu, Li Lijuan, Tao Ruiyang, Gao Yuzhen
Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, Jiangsu, China.
Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, Jiangsu, China.
Forensic Sci Int. 2017 Jun;275:128-137. doi: 10.1016/j.forsciint.2017.03.006. Epub 2017 Mar 21.
Forensic identification of sudden unexplained death (SUD) has always been a ticklish issue because it used to be defined as sudden death without a conclusive diagnosis after autopsy. However, benefiting from the developments in genome research, a growing body of evidence points to the importance of ion channelopathies associated genetic variants in the pathogenesis of SUD. Genetic diagnosis of the deceased is also a new trend in epidemiological studies, for it enables the undertaking for preventive approach in individuals with high risks. In this review, we briefly discuss the molecular structure of ion channels and the role of genetic variants in regulating their functions as well as the diverse mechanisms underlying the ion channelopathies at gene level.
不明原因猝死(SUD)的法医学鉴定一直是个棘手的问题,因为过去它被定义为尸检后仍无确切诊断的猝死。然而,得益于基因组研究的进展,越来越多的证据表明离子通道病相关基因变异在不明原因猝死的发病机制中具有重要作用。对死者进行基因诊断也是流行病学研究的一个新趋势,因为它能够对高危个体采取预防措施。在这篇综述中,我们简要讨论离子通道的分子结构、基因变异在调节其功能中的作用以及基因水平上离子通道病的多种潜在机制。