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Non-invasive system for predicting effectiveness of the exon skipping therapy for muscular dystrophy

Research Project

Project/Area Number 17K10087
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionHyogo Medical University

Principal Investigator

Yasuhiro Takeshima  兵庫医科大学, 医学部, 教授 (40281141)

Co-Investigator(Kenkyū-buntansha) 李 知子  兵庫医科大学, 医学部, 助教 (10596042)
下村 英毅  兵庫医科大学, 医学部, 講師 (30441273)
三崎 真生子  兵庫医科大学, 医学部, 助教 (50595048)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsmuscular dystrophy / molecular therapy / splicing / exon skipping / 筋ジストロフィー / 分子治療 / エクソンスキッピング / 次世代シークエンサー / 小児神経学
Outline of Final Research Achievements

Modulation of splicing with antisense oligonucleotide that convert out-of-frame dystrophin mRNA into in-frame has been developed as a novel therapy for Duchenne muscular dystrophy. However, the effectiveness is different among patients, which disturb the development of antisense oligonucleotide therapy. To establish the non-invasive system for predicting effectiveness of the splicing modulation therapy for muscular dystrophy, gene mutation and splicing pattern of patients were analyzed, and artificial mutant genes were introduced to the cultured cells.

Academic Significance and Societal Importance of the Research Achievements

本研究の成果により、アンチセンスオリゴヌクレオチドによりスプライシングを制御する治療法において、事前に、非侵襲的にその有効性を予測するシステムを開発し得る可能性がある。このようなシステムを応用することにより、より的確に本治療法を臨床応用できるようになり、デュシェンヌ型筋ジストロフィーに対するアンチセンスオリゴヌクレオチド治療の開発をさらに推進できる可能性がある。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (13 results)

All 2019 2018 2017

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 2 results) Presentation (8 results) (of which Int'l Joint Research: 2 results)

  • [Journal Article] Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy2019

    • Author(s)
      Shimomura Hideki、Lee Tomoko、Tanaka Yasuhiko、Awano Hiroyuki、Itoh Kyoko、Nishino Ichizo、Takeshima Yasuhiro
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 21-21

    • DOI

      10.1038/s41439-019-0052-z

    • NAID

      120006644105

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death2019

    • Author(s)
      Yamamoto Takuma、Miura Aya、Itoh Kyoko、Takeshima Yasuhiro、Nishio Hajime
    • Journal Title

      Forensic Science International

      Volume: 302 Pages: 109906-109906

    • DOI

      10.1016/j.forsciint.2019.109906

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy2018

    • Author(s)
      Awano H, Itoh C, Takeshima Y, Lee T, Matsumoto M, Kida A, Kaise T, Suzuki T, Matsuo M.
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 6 Pages: 465-472

    • DOI

      10.1016/j.braindev.2018.02.011

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup2017

    • Author(s)
      Matsumoto M, Awano H, Lee T, Takeshima Y, Matsuo M, Iijima K.
    • Journal Title

      Neuromuscular disorders

      Volume: 27 Issue: 11 Pages: 1023-1028

    • DOI

      10.1016/j.nmd.2017.06.007

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy.2017

    • Author(s)
      Yamamoto T, Taniguchi-Ikeda M, Awano H, Matsumoto M, Lee T, Harada R, Imanishi T, Hayashi N, Sakai Y, Morioka I, Takeshima Y, Iijima K, Saegusa J, Toda T.
    • Journal Title

      Brain and Development

      Volume: 39 Issue: 10 Pages: 861-868

    • DOI

      10.1016/j.braindev.2017.05.008

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] ジストロフェン遺伝子内に切断点を有するX染色体-常染色体均衡型転座によるデュシェンヌ型筋ジストロフィー女児2019

    • Author(s)
      李 知子, 底田 辰之, 三﨑 真生子, 下村 英毅, 奥野 美佐子, 竹島 泰弘
    • Organizer
      第60回日本人類遺伝学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 家族歴のない高CK血症女児の臨床背景の検討2019

    • Author(s)
      李 知子, 徳永 沙知, 牟禮 慎子, 三﨑 真生子, 下村 英毅, 西野 一三, 伊東 恭子, 竹島 泰弘
    • Organizer
      第61回日本小児神経学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene2019

    • Author(s)
      Lee T., Sokoda T., Misaki M., Shimomura H., Takeshima Y.
    • Organizer
      24th International Annual Congress of the World Muscle Society
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases2019

    • Author(s)
      Tamoko L., Tokunaga S.,, Mure C., Misaki M., Shimomura H., Nishino I., Itoh K., Takeshima Y.
    • Organizer
      EUROPEAN HUMAN GENETICS CONFERENCE 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 家族歴のない無症候性高CK血症女児の検討2018

    • Author(s)
      李知子、三崎真生子、下村英毅、伊東恭子、竹島泰弘
    • Organizer
      第121回日本小児科学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 次世代シークエンサーを用いた遺伝子解析によりCalpain-3遺伝子変異を同定した筋症状のない高CK血症女児2018

    • Author(s)
      李知子、西岡 隆文、三崎真生子、下村英毅、竹島泰弘
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018

    • Author(s)
      李 知子、下村英毅、牟禮慎子、三崎真生子、香田 翼、柴田暁男、
    • Organizer
      第60回日本小児神経学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018

    • Author(s)
      李 知子、下村英毅、牟禮慎子、三崎真生子、香田 翼、柴田暁男、川本久美、岡田陽子、小泉真琴、伊東恭子、竹島泰弘
    • Organizer
      日本小児神経学会
    • Related Report
      2017 Research-status Report

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Published: 2017-04-28   Modified: 2021-02-19  

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