Genetic background of sudden death cases suspected of drug induced-long QT syndrome

Research Project

Project/Area Number	22790604
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Single-year Grants
Research Field	Legal medicine
Research Institution	Kobe University (2011) Hyogo Medical University (2010)
Principal Investigator	TAKAHASHI Motonori 神戸大学, 大学院・医学研究科, 特命講師 (90509100)
Project Period (FY)	2010 – 2011
Project Status	Completed (Fiscal Year 2011)
Budget Amount *help	¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000) Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000) Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords	突然死 / 死後遺伝子検査
Research Abstract	Long QT syndrome is a heart rhythm disorder which can cause Torsades de pointes, ventricular fibrillation and sudden death. Some of this syndrome result from DNA mutations and/or are caused by certain medications. I investigated the genetic background of sudden death cases without remarkable autopsy findings. I intended to investigate on 20 cases ; however only 7 cases were enrolled in this study with written informed consent. Direct sequencing analysis on exons of KCNQ1, KCNH2 and SCN5A showed some single nucleotide polymorphisms which were previously known but no new mutations and polymorphisms. I would like to continue and develop the study on genetic analysis of sudden death cases.