Comprehensive genetic analysis of sudden unexplained death syndrome cases using a next-generation sequencing

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08867
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Legal medicine
• Research Institution: University of Toyama
• Principal Investigator: Hata Yukiko 富山大学, 大学院医学薬学研究部(医学), 准教授 (30311674)
• Co-Investigator(Kenkyū-buntansha): 森 寿 富山大学, 大学院医学薬学研究部(医学), 教授 (00239617) ; 木下 耕史 富山大学, 大学院医学薬学研究部(医学), 助教 (10585920) ; 西田 尚樹 富山大学, 大学院医学薬学研究部(医学), 教授 (10315088)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: Sudden unexplained death / Autopsy / Cardiomyopathy / Channelopathy / Next-generation sequence / Epilepsy

Outline of Final Research Achievements

The purpose of our study is to explore the cause and manner of sudden unexplained death syndrome (SUDS). Recent studies on the genetic analysis of SUDS cases have targeted the major channelopathy-associated genes.
We selected the SUDS cases in a series of autopsy cases of Japanese subjects and performed the pathological examination and gene analysis. As a result, we showed that hereditary heart diseases other than channelopathy may also be a significant cause of SUDS. In addition, a combined pathological and genetic evaluation may provide a reliable diagnosis of hereditary heart disease for SUD cases.
We believe that our studies will lead to not only the evaluation of the cause of death but the prevention of SUDS.

Free Research Field

法医学