Development of Antisense Mediated Therapy for Exons Duplication in Duchenne Muscular Dystrophy.

2015 Fiscal Year Final Research Report

• Project/Area Number: 25460666
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Applied pharmacology
• Research Institution: National Center of Neurology and Psychiatry
• 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)
• 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)
• Research Collaborator: AOKI Yoshitsugu ; TANIHATA Jun ; NAKAMURA Akinori ; MASUDA Satoru ; MOTOHASHI Yuko ; YOKOTA Toshifumi
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 応用薬理学 / 遺伝子診断・治療 / 筋ジストロフィー

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.

Free Research Field

分子生物学