Metabolic autopsy; The new approach to sudden unexpected death

• Project/Area Number: 25860490
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Legal medicine
• Research Institution: Nagasaki University
• Principal Investigator: YAMAMOTO Takuma 長崎大学, 医歯薬学総合研究科(医学系), 講師 (50634458)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: Metabolic autopsy / sudden unexpected death / SIDS / 突然死 / metabolic autopsy / sudden unexpedted death / Metabolic Autopsy / 乳幼児突然死

Outline of Final Research Achievements

First we performed genetic analysis to sudden unexpected death in infancy cases. With using next generation sequencer, we found a genetic variant which is often detected in sudden unexpected death in infancy cases. Second we investigated the mechanism of Bezafibrate treatment to mitochondrial disorder model mouse.
In the present study we found the relationship between sudden unexpected death in infancy and metabolic diseases.

Research Products

• [Journal Article] 次世代シークエンサーを活用した乳幼児突然死症例の包括的な心筋イオンチャネル遺伝子解析 (2014)
  • Author(s): 深堀友希, 梅原敬弘, 山本琢磨, 的場梁次, 池松和哉
  • Journal Title: DNA多型 Volume: 22 Pages: 201-201
  • Peer Reviewed
• [Journal Article] Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy (2014)
  • Author(s): Yamamoto T, Tanaka H, Emoto Y, Umehara T, Fukahori Y, Kuriu Y, Matoba R, Ikematsu K
  • Journal Title: Brain Dev Volume: 36 Pages: 479-483
  • NAID: 120006986403
  • Peer Reviewed
• [Presentation] 不整脈が原因と疑われた乳幼児突然死の一症例 (2015)
  • Author(s): 山本琢磨、石川泰輔、深堀友希、梅原敬弘、 村瀬壮彦、蒔田直昌、池松和哉
  • Organizer: 第21回日本SIDS・乳幼児突然死予防学会
  • Place of Presentation: 松本市中央公民館(松本市)
  • Year and Date: 2015-03-06 – 2015-03-07
• [Presentation] 脂肪酸代謝異常症からみた乳幼児突然死症例の遺伝子解析 (2014)
  • Author(s): 山本琢磨, 梅原敬弘, 深堀友希, 村瀬壮彦, 池松和哉
  • Organizer: 日本DNA多型第23回学術集会
  • Place of Presentation: ウインクあいち(名古屋市)
  • Year and Date: 2014-11-26 – 2014-11-28
• [Presentation] 脂肪酸代謝異常症からみた乳幼児突然死症例の遺伝子解析 (2014)
  • Author(s): 山本琢磨, 梅原敬弘, 深堀友希, 村瀬壮彦, 池松和哉
  • Organizer: 第63回法医学会九州地方会
  • Place of Presentation: 鹿児島県市町村自治会館(鹿児島市)
  • Year and Date: 2014-10-10 – 2014-10-11
• [Presentation] Comprehensive analysis of cardiac ion channel gene of sudden infant death cases utilizing the next generation sequencer (2014)
  • Author(s): Yuki Fukahori, Takahiro Umehara, Takuma Yamamoto, Ryoji Matoba, Kazuya Ikematsu
  • Organizer: 9th ISALM
  • Place of Presentation: 福岡国際会議場(福岡市)
  • Year and Date: 2014-06-16 – 2014-06-20
• [Presentation] Bezafibrate treatment of an OXPHOS disorder mouse model of Leigh Syndrome (2014)
  • Author(s): Takuma Yamamoto, Jasper C Komen, Alysha Eibl-Geldart, Bi-Xia Ke, Adrienne Laskowski, Takahiro Umehara, Kazuya Ikematsu, David R Thorburn
  • Organizer: 9th ISALM
  • Place of Presentation: 福岡国際会議場(福岡市)
  • Year and Date: 2014-06-16 – 2014-06-20
• [Presentation] 次世代シークエンサーを活用した乳幼児突然死症例の包括的な心筋イオンチャネル遺伝子解析
  • Author(s): 深堀 友希,梅原 敬弘,山本 琢磨,的場 梁次,池松 和哉
  • Organizer: 日本DNA多型学会
  • Place of Presentation: 仙台市戦災復興記念館
• [Presentation] 次世代シークエンサーを活用した乳幼児突然死症例の包括的な心筋イオンチャネル遺伝子解析
  • Author(s): 深堀 友希,梅原 敬弘,山本 琢磨,的場 梁次,池松 和哉
  • Organizer: 日本法医学会九州地方会
  • Place of Presentation: 福岡市東区馬出3-1-1 九州大学医学系研究科