Postmortem genetic analysis for calcium-dependent signal transduction molecules in sudden unexplained death cases

• Project/Area Number: 20590691
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Osaka Medical College
• Principal Investigator: SUZUKI Kouichi Osaka Medical College, 医学部, 教授 (60171211)
• Project Period (FY): 2008 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2010: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2008: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 法医病理学 / 突然死 / 不整脈 / 遺伝子解析 / 法医解剖 / 遺伝子変異 / ストレス / 剖検

Research Abstract

This study intended to examine whether fatal arrhythmogenic diseases are involved in sudden unexplained death. Postmortem genetic analysis revealed that three cases of psychiatric patients possessed the ryanodine receptor gene mutations. From the forensic point of view, postmortem genetic analysis for fatal arrhythmogenic diseases is important to obtain information on cause of death. It may also be useful for preventing living family member carriers from preventing possible cardiac events.

Research Products

• [Journal Article] Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome (2010)
  • Author(s): Sato T., Nishio H., Iwata M., Tsuboi K., Tamura A., Miyazaki T., Suzuki K
  • Journal Title: Forensic.Sci.Int. 194(1-3) Pages: 77-79
  • Peer Reviewed
• [Journal Article] Postmortem molecular screening for mutations in ryanodine receptor typel gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome (2010)
  • Author(s): Sato T, Nishio H, Iwata M, Tsuboi K, Tamura A, Miyazaki T, Suzuki K
  • Journal Title: Forensic Science International Volume: 194 Pages: 77-79
  • Peer Reviewed
• [Journal Article] Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model (2009)
  • Author(s): Nishio H., Kuwahara M., Tsubone H., Koda Y., Sato T., Fukunishi S., Tamura A., Suzuki K
  • Journal Title: Int.J.Legal Med. 123(3) Pages: 253-7
  • Peer Reviewed
• [Journal Article] Identification of malignant hyperthermia-susceptible ryanodine receptor type1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature (2009)
  • Author(s): Nishio H., Sato T., Fukunishi S., Tamura A., Iwata M., Tsuboi K., Suzuki K
  • Journal Title: Leg.Med. 11(3) Pages: 142-3
  • Peer Reviewed
• [Journal Article] Identification of an ethnic-specific variant of the KCNQ1 cardiac potassium channel gene in sudden unexplained death (2009)
  • Author(s): Hajime Nishio
  • Journal Title: International Journal of Legal Medicine 123 Pages: 253-257
  • Peer Reviewed
• [Presentation] 若年性突然死症例における不整脈源性右室心筋症原因遺伝子KCNQ1変異の検討 (2010)
  • Author(s): 佐藤貴子、西尾元、坪井健人、岩田美佐、田村明敬、鈴木廣一
  • Organizer: 第94次日本法医学会学術全国集会
  • Place of Presentation: 東京
  • Year and Date: 2010-06-24
• [Presentation] 原因不明の突然死症例に発見されたQT延長症候群原因遺伝子KCNQ1変異と変異マウスを用いた機能解析 (2009)
  • Author(s): 西尾元、岩田美佐、佐藤貴子、福西新弥、坪井健人、田村明敬、宮崎時子、鈴木廣一
  • Organizer: 第93次日本法医学会学術全国集会
  • Place of Presentation: 大阪
• [Remarks] ホームページ等