Molecular autopsy for sudden death in Japan

• Published in: Journal of Toxicologic Pathology Vol. 37; no. 1; pp. 1 - 10
• Main Authors: Yamamoto, Takuma, Emoto, Yuko, Murase, Takehiko, Umehara, Takahiro, Miura, Aya, Nishiguchi, Minori, Ikematsu, Kazuya, Nishio, Hajime
• Format: Journal Article
• Language: English
• Published: Japan JAPANESE SOCIETY OF TOXICOLOGIC PATHOLOGY 2024; Japan Science and Technology Agency
• Subjects: Abnormalities; Autopsies; Autopsy; Computed tomography; Death; forensic autopsy; Genetic analysis; Genetic diversity; Genetic variance; Malformations; metabolic autopsy; Metabolic disorders; molecular autopsy; Mortality; postmortem genetic analysis; sudden death; Tomography; Young adults; sudden death; forensic autopsy; metabolic autopsy; molecular autopsy; postmortem genetic analysis
• ISSN: 0914-9198; 1881-915X; 1347-7404
• DOI: 10.1293/tox.2023-0080

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.