Analysis of single nucleotide polymorphism in type 1 Ryanodine recetor

• Project/Area Number: 25861376
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Anesthesiology
• Research Institution: Hiroshima University
• Principal Investigator: Haraki Toshiaki 広島大学, 医歯薬保健学研究院, 助教 (40403563)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
• Keywords: 悪性高熱症 / １型リアノジン受容体 / 1型リアノジン受容体

Outline of Final Research Achievements

Malignant hyperthermia, due to hypersensitivity of type 1 reanodine receptor (RyR1), is a life-threatening disorder triggered by anesthetic agents. We analyzed the functions of RyR1 which have mutation (T2206M) and/or single nucleotide polymorphism (E3756Q) in order to investigate the influences of single nucleotide polymorphism in RyR1. The function of RyR1 which has only single nucleotide polymorphism is equivalent, and RyR1 which has mutation and single nucleotide polymorphism are notably sensitive to agonists.