| Project/Area Number |
25460666
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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 |
Applied pharmacology
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| Research Institution | National Center of Neurology and Psychiatry |
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Principal Investigator |
SAITO Takashi 国立研究開発法人国立精神・神経医療研究センター, 遺伝子疾患治療研究部, 客員研究員 (40625969)
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| Co-Investigator(Kenkyū-buntansha) |
NAGATA Tetsuya 国立精神・神経医療研究センター神経研究所, 遺伝子疾患治療研究部, 客員研究員 (50362976)
TAKEDA Shin'ichi 国立精神・神経医療研究センター神経研究所, 遺伝子疾患治療研究部, 部長 (90171644)
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| Research Collaborator |
AOKI Yoshitsugu
TANIHATA Jun
NAKAMURA Akinori
MASUDA Satoru
MOTOHASHI Yuko
YOKOTA Toshifumi
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 応用薬理学 / 遺伝子診断・治療 / 筋ジストロフィー / ジストロフィン / 重複変異 / アンチセンス / エクソン・スキップ |
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| Outline of Final Research Achievements |
Duchenne muscular dystrophy is a disorder with dystrophin deficiency caused by DMD gene mutation and its 10% patients have exon duplication mutation. This study explored the feasibility of exon-skipping therapy for exon duplication in DMD gene. Cells from DMD patient having exon 8/9 duplication were treated by antisense targeting exon 6/7/8. A restoration to the in-frame mutation and a recovery of dystrophin were observed; suggesting the feasibility of exon-skipping therapy for exon duplication. However, it was not identified what is the best method to achieve stable and reproducible results; and further studies are required.
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