| Project/Area Number |
22591133
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Sapporo Medical University |
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Principal Investigator |
TACHI Nobutada 札幌医科大学, 保健医療学部, 准教授 (80136944)
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| Co-Investigator(Kenkyū-buntansha) |
YAMASITA Tosiharu 札幌医科大学, 医学部, 教授 (50167706)
KIKUCHI Sin 札幌医科大学, 医学部, 助教 (20404585)
OHYA Kazuhiro 札幌医科大学, 医学部, 講師 (60438067)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2012: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 小児神経学 / 分子遺伝 / SMA 複合ヘテロ / SMN1転写産物 / SMN2転写産物 / SMN蛋白 / NMD / 脊髄性筋委縮症 / SMN2mRNA / 培養皮膚線維芽細胞 / VPA / 塩酸アマンタジン / SMN2 cDNAコピー数 / Real-time PCE |
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| Research Abstract |
Spinal muscular atrophy (SMA) is characterized by degeneration of the motoric neurons of the anterior horn cells of the spinal cord, leading to muscle atrophydue to mutation of telomeric survival motor neuron (SMN1) located in chromosome on 5q13. SMN2, high homology of SMN1, is determined to disease severity. SMA II and III have 3 or 4 numbers of SMN2 gene. Recently, sodium valproate (VPA) treated with epilepsy, increased number of SMN2 gene in vitro. Increased muscle strength with Amantazine treatment has reported in SMA II patients. We studied effect of treatment with VPA and amantazine using ccultured skin fibroblasts derived from SMA patints based on SMN mRNA and protein levels. Results: VPA treatment was effective but Amantazine was no effeitve in vitro.
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