2013 Fiscal Year Final Research Report
Does every patient of congenital RYR1-associated myopathy develop malignant hyperthermia?
| Project/Area Number |
23592291
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Anesthesiology/Resuscitation studies
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| Research Institution | Hiroshima University |
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Principal Investigator |
TOSHIMICHI Yasuda 広島大学, 医歯薬学保健学研究院(医), 助教 (20432718)
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| Co-Investigator(Kenkyū-buntansha) |
KAWAMOTO Masashi 広島大学, 医歯薬学保健学研究院, 教授 (40127642)
HARAKI Toshiaki 広島大学, 病院, 助教 (40403563)
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| Project Period (FY) |
2011 – 2013
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| Keywords | リアノジン受容体 / 悪性高熱症 / 先天性筋疾患 / 遺伝子変異 |
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| Research Abstract |
We investigated how the variants of the type 1 ryanodine receptor (RYR1) modulate intracellular calcium concentration. The variants which exist in C terminal of RYR1 have hypersensitive response to caffeine, while the variants which exist in center of RYR1 have less sensitive to caffeine than wild type. Therefore, we concluded that the patients of congenital myopathy who have the variants in C terminal of RYR1 have low possibility to predispose malignant hyperthermia, on the other hand, the patients of congenital myopathy who have the variants in center of RYR1 have high possibility to predispose malignant hyperthermia.
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