| Project/Area Number |
24659704
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Anesthesiology/Resuscitation studies
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| Research Institution | Saitama Medical University |
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Principal Investigator |
MATOBA Nana 埼玉医科大学, 医学部, 研究員 (80622969)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 悪性高熱症 / エクソームシーケンス / エクソーム解析 / 次世代シーケンサ / ネットワーク解析 |
|---|
| Research Abstract |
We performed exome sequencing of Japanese families with malignant hyperthermia. All exons of RYR1 of the carrier in this family were directly sequenced in previous research and no causative mutation has been found. To detect disease causing mutation efficiently, we prepared sets of candidate genes that contain 1) genes related to calcium signaling, 2) genes located on malignant hyperthermia susceptibility loci, 3) genes expressed in tissues where RYR1 and CACNA1S are highly expressed or 4) genes that interact with CACNA1S or RYR1 directly or indirectly. Using data from exome sequencing and the candidate gene sets, we identified 5 plausible mutations. One of the mutations was in CACNA1S that codes voltage-gated L-type calcium channel alpha subunit. This subunit interacts with Ryanodine receptor 1. The functional validation if this mutation is really causative of this family awaits further study such as an electrophysiological experiment.
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