2010 Fiscal Year Final Research Report
Functional analysis of mutated ryanodine receptors found newly in Japanese patients of malignant hyperthermia.
Project/Area Number |
20591832
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Anesthesiology/Resuscitation studies
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Research Institution | Hiroshima University |
Principal Investigator |
YASUDA Toshimichi Hiroshima University, 大学院・医歯薬学総合研究科, 助教 (20432718)
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Project Period (FY) |
2008 – 2010
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Keywords | 悪性高熱症 / リアノジン受容体 / 遺伝子変異 |
Research Abstract |
This research suggested that mutations of Arg2508Cys and Arg2508His in ryanodine receptor (RYR1) caused malignant hyperthermia (MH). The mutation of Ala4894Thr was also suggested to cause MH, while the mutation of Ala4894Pro which was found in the patients of congenital neuromuscular disease with uniform type 1 fiber was less sensitive to RYR1 agonist than wild type.
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