KCNE、KCNQ1与心性猝死的相关性研究进展

Research progress between KCNE,KCNQ1 and sudden cardiac death

部分心性猝死由于缺乏明确的病理学改变,其鉴定工作一直是法医工作者的一大难题。近年来,与长QT综合征、心房颤动等致死性心律失常疾病相关基因(KCNE基因家族与KCNQ1)等研究逐渐增多。国内外研究发现KCNE和KCNQ1基因编码心肌钾离子通道,其基因异常可引起严重的心律失常,甚至导致心性猝死。因此,死后KCNE和KCNQ1的基因检测对于心性猝死鉴定具有重要意义。本文对KCNE、KCNQ1与心性猝死的相关性研究进展进行综述,希望能为法医学研究和实践提供参考。

A significant proportion of sudden cardiac death is autopsy-negative even after comprehensive forensic investigation, which is a big problem for forensic experts. In recent years, studies on the genes （ KCNE and KCNQ1 ） which are associated with the fatal arrhythmia such as long QT syndrome and atrial fibrillation have increased gradually. Some studies suggested abnormality in KCNE and KCNQ1 genes encoding potassium ion channels could cause serious arrhythmia, even lead to sudden cardiac death （SCD）. Therefore, the postmortem genetic testing of KCNE and KCNQ1 is of great significance for the appraisal of sudden cardiac death. The resent progress between KCNE ,KCNQ1 and sudden cardiac death was reviewed in this paper, in order to provide the valuable guidance for the forensic research and practice.