Research on molecular pathogenesis and next-generation therapeutic agent for dystonia-parkinsonism
| Project/Area Number |
24390223
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | The University of Tokushima |
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Principal Investigator |
KAJI Ryuji 徳島大学, 大学院ヘルスバイオサイエンス研究部, 教授 (00214304)
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| Co-Investigator(Kenkyū-buntansha) |
KAWARAI Toshitaka 徳島大学, 大学院ヘルスバイオサイエンス研究部, 講師 (50614137)
GOTO Satoshi 徳島大学, 大学院ヘルスバイオサイエンス研究部, 特任教授 (50240916)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥14,820,000 (Direct Cost: ¥11,400,000、Indirect Cost: ¥3,420,000)
Fiscal Year 2014: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2013: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2012: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
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| Keywords | ジストニア / A2-NTX / ストリオゾーム / 基底核 / ボツリヌス毒素 / ｼﾞｽﾄﾆｱ / ｽﾄﾘｵｿﾞｰﾑ / ﾎﾞﾂﾘﾇｽ毒素 / ゾルピデム / ＤＹＴ６ / ＧＬＵＤ１ / DYT6 / GLUD1 |
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| Outline of Final Research Achievements |
We performed genetic testing for the currently-known DYT genes and found mutations in 18 out of 61 cases (29.5%). Whole exome sequencing in two patients demonstrated a new candidate gene for dystonia, which is related to epigenetics. We are now analysing the biological abnormalities using conditional knock-out mice. In the study of DYT1 model mice, we found a down-regulation of mu-opioid receptor dominant in striosome, and are now confirming this using neuronal cell culture. As for A2NTX, the next generation botulinum toxin with high safety and efficacy than onabotulinumtoxinA (BOTOX), we finalized the patent applications all over the world by adding animal and human data.
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Report
(4 results)
Research Products
(24 results)
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[Journal Article] Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.2014
Author(s)
Miyamoto R, Morino H, Yoshizawa A, Miyazaki Y, Maruyama H, Murakami N, Fukada K, Izumi Y, Matsuura S, Kaji R, Kawakami H.
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Journal Title
J Neurol Sci.
Volume: 337
Issue: 1-2
Pages: 219-223
DOI
Related Report
Peer Reviewed
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[Journal Article] DYT6 in Japan-genetic screening and clinical characteristics of the patients.2014
Author(s)
Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, Miyashiro A, Sako W, Izumi Y, Kawakami H, Kaji R.
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Journal Title
Mov Disord.
Volume: 29
Issue: 2
Pages: 278-280
DOI
Related Report
Peer Reviewed
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