An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene
An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene
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DOI：
10.1016/j.legalmed.2012.04.009
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发表时间：
2012-11-01
期刊：
影响因子：
1.5
通讯作者：
Kubo, Shin-ichi
中科院分区：
文献类型：
--
作者：
Matsusue, Aya;Kashiwagi, Masayuki;Kubo, Shin-ichi
SCN 5A（钠通道，电压门控，V型α亚基）基因编码心脏钠通道，是电压门控钠通道家族的成员。SCN 5A突变与多种遗传性心律失常相关，包括长QT综合征和Brugada综合征。我们报告一例夜间猝死综合征的尸检。一个三十多岁的男人晚上睡觉时死了。尸检时，没有发现外伤、疾病或吸毒是可能的死因。我们检查了SCN 5A基因的突变，并确定了一个杂合突变导致R1193Q氨基酸取代。研究发现SCN 5A基因R1193Q多态性使通道失活不稳定，可能是Brugada和长QT综合征的危险因素。可以认为该病例的死亡原因是心源性猝死。(c)2012爱思唯尔爱尔兰有限公司保留所有权利。
SCN5A (sodium channel, voltage-gated, type V. alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome. We report an autopsy case of sudden unexpected nocturnal death syndrome. A man in his thirties died at night while sleeping. At autopsy, no traumatic injury, disease or drug intake was observed as a possible cause of death. We examined mutations in the SCN5A gene and identified a heterozygous mutation causing an R1193Q amino acid substitution. It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. It may be considered that the cause of death in this case was sudden cardiac death. (c) 2012 Elsevier Ireland Ltd. All rights reserved.