| Project/Area Number |
24591263
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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 |
Neurology
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| Research Institution | Gunma University (2013-2014)
Okayama University (2012) |
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Principal Investigator |
IKEDA Yoshio 群馬大学, 医学(系)研究科(研究院), 教授 (00282400)
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| Co-Investigator(Kenkyū-buntansha) |
KURATA Tomoko 岡山大学, 大学病院, 助教 (40598562)
MORIMOTO Nobutoshi 岡山大学, 大学病院, 助教 (60598556)
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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 |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 脊髄小脳変性症 / RNA gain-of-function / マイクロサテライトリピート / spinocerebellar ataxia / SCD / SCA36 / NOP56 / GGCCTGリピート / RNA foci / 分子病態 / 運動ニューロン疾患 / 筋萎縮性側索硬化症 / TDP-43 / FUS/TLS / 難聴 / オージオグラム |
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| Outline of Final Research Achievements |
Cerebellar ataxia, motor neuron involvement, and sensorineural hearing loss are found to be the characteristic clinical findings of genetic disease SCA36/Asidan. The RNA-FISH analysis using an SCA36/Asidan autopsy specimen, RNA foci were found in the nuclei of neurons from various parts of CNS as well as skeletal muscles. There is a large variety of appearance in size, shape, and distribution among RNA foci. Based on these findings, the molecular effect of SCA36 mutation might be involved in the RNA gain-of-function mechanism.
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