Yamamoto Takuma, Emoto Yuko, Murase Takehiko, Umehara Takahiro, Miura Aya, Nishiguchi Minori, Ikematsu Kazuya, Nishio Hajime
Department of Legal Medicine, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya-shi, Hyogo 663-8501, Japan.
Department of Legal Medicine, Kansai Medical University, 2-5-1 Shinmachi, Hirakata-shi, Osaka 573-1010, Japan.
J Toxicol Pathol. 2024 Jan;37(1):1-10. doi: 10.1293/tox.2023-0080. Epub 2023 Aug 30.
Japan has various death investigation systems; however, external examinations, postmortem computed tomography, macroscopic examinations, and microscopic examinations are performed regardless of the system used. These examinations can reveal morphological abnormalities, whereas the cause of death in cases with non-morphological abnormalities can be detected through additional examinations. Molecular autopsy and postmortem genetic analyses are important additional examinations. They are capable of detecting inherited arrhythmias or inherited metabolic diseases, which are representative non-morphological disorders that cause sudden death, especially in infants and young people. In this review, we introduce molecular autopsy reports from Japan and describe our experience with representative cases. The relationships between drug-related deaths and genetic variants are also reviewed. Based on the presented information, molecular autopsy is expected to be used as routine examinations in death investigations because they can provide information to save new lives.
日本有多种死亡调查系统；然而，无论使用何种系统，都会进行外部检查、尸体计算机断层扫描、大体检查和显微镜检查。这些检查可以揭示形态学异常，而对于无形态学异常的病例，可通过额外检查来检测死因。分子尸检和死后基因分析是重要的额外检查。它们能够检测遗传性心律失常或遗传性代谢疾病，这些是导致猝死的典型非形态学疾病，尤其在婴儿和年轻人中。在本综述中，我们介绍来自日本的分子尸检报告，并描述我们对典型病例的经验。还将回顾药物相关死亡与基因变异之间的关系。基于所呈现的信息，分子尸检有望在死亡调查中用作常规检查，因为它们可以提供信息以挽救新的生命。
