Comprehensive genomic analysis to sudden unexpected deaths due to unknown causes

2014 Fiscal Year Final Research Report

• Project/Area Number: 24390177
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Tokai University
• Principal Investigator: OSAWA Motoki 東海大学, 医学部, 教授 (90213686)
• Co-Investigator(Kenkyū-buntansha): OZAKI Yuki 東海大学, 医学部, 研究員 (80636118) ; NAKATOME Masato 藤田保健衛生大学, 医学部, 准教授 (90263251)
• Co-Investigator(Renkei-kenkyūsha): SATOH Fumiko 東海大学, 医学部, 准教授 (70328128)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: ゲノム解析 / 突然死 / QT延長症 / 次世代シークエンサー / 乳幼児突然死症候群

Outline of Final Research Achievements

This study of postmortem genetic testing aimed to deduce the cause of death in sudden unexpected deaths from unknown causes. Because of a number of genes responsible for various inheritable diseases, a comprehensive analysis using the next generation sequencer was applied to cases of sudden infant death syndrome. The analysis successfully revealed ante-mortem diseases in several cases. For instance, in an infant sudden death who suffered by influenza virus infection, one base insertion of C was evident in the KCNQ1 gene, indicating the relation to long QT syndrome. Responsible mutation was detected in adult sudden death who had Brugada syndrome. The multidisciplinary approach including cardiologist and genetic councilor must be developed further.

Free Research Field

医歯薬学