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2001 Fiscal Year Final Research Report Summary

Establishment of treatment of Duchenne muscular dystrophy

Research Project

Project/Area Number 12557068
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field Pediatrics
Research InstitutionKobe University

Principal Investigator

MATSUO Masafumi  Kobe University, School of Medicine, Professor, 医学部, 教授 (10157266)

Co-Investigator(Kenkyū-buntansha) TAKESHIMA Yasuhiro  Kobe University, Hospital, Assistant, 医学部・附属病院, 助手 (40281141)
Project Period (FY) 2000 – 2001
KeywordsDuchenne muscular dystrophy / splicing / splicing enhancer sequence / exon skipping / antisense oligonucleotide / スキッピング / アンチセンス / スプライシング促進配列
Research Abstract

It has been proposed that Duchenne muscular dystrophy can be treated with modification of out-of-frame mutation into in-frame mutation by inducing exon skipping. In this study the possibility to treat DMD was evaluated by seeing inducibility of exon skipping. In the previous study we showed exon 19 skipping can be induced by blocking the function of splicing enhancer sequence with antisense oligonucleotides. To apply this strategy we looked for splicing enhancer sequence in exons that are located in deletion hot spots. From exon sequence purine-rich sequence were extracted as candidate sequences for splicing enhancer sequence and splicing enhancer activity of those candidate sequences were analyzed by using Drosophilla dsx minigene. Thereby some antisense oligonucleotides were found to have an ability to induce exon skipping.

  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] Suminaga R.: "Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy"Am J Med Genet. 92. 77-78 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ito T.: "One of three examined purine-rich sequences selected from dystrophin exons exhibits splicing enhancer activity"Acta Myologica. 2. 151-153 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Matsuo M.: "Treatment of Duchenne muscular dystrophy at the mRNA level"Frontiers in human genetics diseases and technologies. 24. 347-361 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tachi N.: "Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin"Pediatr.Neurol. 24. 373-378 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [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)

    • Description
      「研究成果報告書概要(和文)」より
  • [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)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Suminaga, R, Takeshima, Y, Yasuda, K, Shiga, N, Nakamura, H, Matsuo, M.: "Non-homologous recombination between Alu and LINE- 1 repeats caused a 430 kbdeletion of the dystrophin gene : A novel source of genomic instability"J. Hum. Genet.. 45. 331-336 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ito, T, Takeshima, Y, Nakamura, H, Matsuo, M.: "One of three examined purine-rich sequences selected from dystrophin exons exhibits splicing enhancer activity"Acta Myologica. 20. 151-153 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Matsuo, M, Takeshima, Y.: "Treatment of Duchenne muscular dystrophy at the mRNA level"Frontiers in human genetics diseases and technologies. 347-361 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tachi, N, Chiba, S, Matsuo, M, Matsumura, K, Saito, K. Fukuyama: "muscular dystrophy associated with lack of C-terminal domain of dystrophin"Pediatr. Neurol. 24. 373-378 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takeshima, Y, Yagi, M, Ishikawa, Y, Ishikawa, Y, Minami, T, 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)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ito, T, Takeshima, Y, Sakamoto, H, Nakamura, H, Matsuo, M.: "Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene"Kobe. J. Med. Sci.. 47. 193-202 (2001)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2003-09-17  

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