• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Study on the treatment of Duchenne musclar dystrophy with chimera RNA/DNA

Research Project

Project/Area Number 13307026
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKobe University

Principal Investigator

MATSUO Masafumi  Kobe University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (10157266)

Co-Investigator(Kenkyū-buntansha) YAGI Mariko  Kobe University, Hospital, Research Associate, 医学部付属病院, 助手 (60362787)
TAKESHIMA Tasuhiro  Kobe University, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (40281141)
Project Period (FY) 2001 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥55,120,000 (Direct Cost: ¥42,400,000、Indirect Cost: ¥12,720,000)
Fiscal Year 2003: ¥16,120,000 (Direct Cost: ¥12,400,000、Indirect Cost: ¥3,720,000)
Fiscal Year 2002: ¥16,120,000 (Direct Cost: ¥12,400,000、Indirect Cost: ¥3,720,000)
Fiscal Year 2001: ¥22,880,000 (Direct Cost: ¥17,600,000、Indirect Cost: ¥5,280,000)
Keywordsdystrophin / Duchenne / muscular dystrophy / molecular therapy / 遺伝子異常 / デュシェンヌ型筋ジストロフィー / キメラRNA / DNA / 点変異 / 筋細胞 / 治療 / 点突然変異
Research Abstract

In this study the method to treat Duchenne musclar dystrophy (DMD) was examined by inducing exon 41 skipping. In one DMD a nonsense mutation was identified in exon 41 of the dystrophin gene. It was supposed that he will start dystrophin production when exon 41 skipping was induced resulting in in-frame mRNA. RNA/ENA chimera was employed to induce exon 41 skipping. Several RNA/ENA chimera were designed to cover the full-length of exon 41 and each of RNA/ENA chimera examined for its activity to induce exon 41 skipping. As a result the best RNA/ENA was identified. The selected RNA/ENA chimera was transfected to myocytes of the DMD case. Remarkably, exon 41 skipping was induced in his dystrophin mRNA and dystrophin expression was shown.

Report

(4 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • Research Products

    (25 results)

All Other

All Publications (25 results)

  • [Publications] Yagi M: "Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy"Hum.Gemet.. 112. 164-170 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ito T: "Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy"J.Neurol. 250. 581-587 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Adachi K: "Heterogpus dystrophin mRNAs produced by a novel splice acceptor site mutation in intermediate dystrophinopathy"Ped.Res.. 53. 1-7 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Masafumi M: "Treatment of Duchenne muscular dystrophy with oligonucleotides against an exonic splicing enhancer sequence"Basic and Applied Myology. (in press). (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Nakayama Y: "Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients"American Journal of Pathology. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M.: "Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy."Hum.Genet.. 112. 164-170 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ito T, Takeshima Y, Yagi M, Kamei S, Wada H, Matsuo M.: "Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy."J.Neurol.. 250. 581-587 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Adachi K, Takeshima Y, Wada H, Yagi Y, Nakamura H, Matsuo M.: "Hetergpus dystrophin mRNAs produced by a novel splice acceptor site mutation in intermediate dystrophinopathy."Ped.Res.. 53. 1-7 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Matsuo M, Yagi M, Takeshima Y.: "Treatment of Duchenne muscular dystrophy with oligonucleotides against an exonic splicing enhancer sequence."Basic and Applied Myology. (in press). (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Nakayama Y, Nara N, Kawakita Y, Takeshima Y, Arakawa M, Katoh M, Morita S, Iwatsuki K, Tanaka K, Okamoto S, Kitamura T, Seki N, Matsuda R, Matsuo M, Saito K, Hara T.: "Cloning of cDNA Encoding a Regeneration-associated Muscle Protease Whose Expression is Attenuated in Cell Lines Derived from Duchenne Muscular Dystrophy Patients"American Journal of Pathology. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Yagi M: "Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy"Hum.Gemet.. 112. 164-170 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Ito T: "Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy"J.Neurol. 250. 581-587 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Adachi K: "Hetergpus dystrophin mRNAs produced by a novel splice acceptor site mutation in intermediate dystrophinopathy"Ped.Res.. 53. 1-7 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Masafumi M: "Treatment of Duchenne muscular dystrophy with oligonucleotides against an exonic splicing enhancer sequence"Basic and Applied Myology. in press. (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Nakayama Y: "Cloning of cDNA Encoding a Regeneration-associated Muscle Protease Whose Expression is Attenuated in Cell Lines Derived from Duchenne Muscular Dystrophy Patients"American Journal of Pathology. in press. (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Saito-Ohara F, Fukuda Y, Ito M, Agarwala K, Hayashi M, Matsuo M, Imoto I, Yamakawa K, Nakamura Y, Inazawa J.: "The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation"Am J Hum Genet.. 71. 637-645 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Suminaga R, Takeshima Y, Adachi K, Yagi M, Nakamura H, Matsuo M.: "A novel cryptic exon in intron III of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5"J Hum Genet.. 47. 196-201 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Matsuo M.: "Duchenne and Becker muscular dystrophy : from gene diagnosis to molecular therapy"IUBMB Life. 53. 147-152 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Adachi K, Takeshima Y, Wada H, Yagi M, Nakamura H, Matsuo M.: "Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy"Pediatr Res.. 53. 125-131 (2003)

    • Related Report
      2002 Annual Research Report
  • [Publications] Yagi M, Takeshima Y, Nakamura H, Matsuo M.: "Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy"Hum Genet.. 112. 164-170 (2003)

    • Related Report
      2002 Annual Research Report
  • [Publications] Ito T.: "One of three examined purine-rich sequences selected from dystrophin exons exhibits splicing enhancer activity"Acta Myologica. 2. 151-153 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Matsuo M.: "Treatment of Duchenne muscular dystrophy at the mRDA level."Frontiers in human genetics diseases and technologies.. 347-361 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Tachi N.: "Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin."Pediatr. Neurol. 24. 373-378 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Takeshima Y.: "Nakamura, H, Matsuo, M. Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient."Brain Dev.. 23. 788-798 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Ito T.: "Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene."Kobe. J. Med. Sci.. 47. 193-202 (2001)

    • Related Report
      2001 Annual Research Report

URL: 

Published: 2001-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi