New pathomechanism and the application of the treatment for Fukuyama-type congenital muscular dystrophy

• Project/Area Number: 20790725
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Osaka University
• Principal Investigator: TANIGUCHI Mariko Osaka University, 医学研究科, 特任助教(常勤) (00410738)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 先天生筋ジストロフィー / ゲノム創薬 / スプライシング異常 / アンチセンス治療 / 福山型筋ジストロフィー / 遺伝子 / 先天性筋ジストロフィー / RNA創薬

Research Abstract

1, We revealed that FCMD is caused by splicing abnormality which is induced by pathogenic exon trapping of SVA retrotransposal insertion. 2, We also detected the abnormal fukutin protein in FCMD. 3, We checked that the same abnormal splicing pattern was seen in FCMD model mice. 4 We adopted phosphorothioate-linked 2'-O-methyl RNA (2'OMePS) and Morpholino oligonucleotides to design several 25 mer AONs to search the best target sequences.

Research Products

• [Journal Article] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy (2009)
  • Author(s): Kanagawa, M., Nishimoto, A., Chiyonobu, T., Takeda, S., Miyagoe-Suzuki, Y., Wang, F., Fujikake, N., Taniguchi, M., Lu, Z., Tachikawa, M., Nagai, Y., Tashiro, F., Miyazaki, J., Tajima, Y., Takeda, S., Endo, T., Kobayashi, K., Campbell, K.P., Toda, T.
  • Journal Title: Hum. Mol. Genet 18 Pages: 621-631
  • Peer Reviewed
• [Journal Article] Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans (2009)
  • Author(s): Inagaki, H., Ohye, T., Kogo, T., Kato, T., Bolor, H., Taniguchi, M., Shaikh, T.H., Emanuel, B.S., Kurahashi, H.
  • Journal Title: Genome Res 19 Pages: 191-198
  • Peer Reviewed
• [Journal Article] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. (2009)
  • Author(s): Kanagawa M
  • Journal Title: Human Molecular Genetics 18 Pages: 621-631
  • Peer Reviewed
• [Journal Article] Chromosomal instability mediated by non-B DNA : cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. (2009)
  • Author(s): Inagaki H
  • Journal Title: Genome Research 19 Pages: 191-198
  • Peer Reviewed
• [Journal Article] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model miceto dystfoilycanbpathy (2009)
  • Author(s): Motoi Kanagawa
  • Journal Title: Human Molecular Genetics 18 Pages: 621-631
  • Peer Reviewed
• [Presentation] 福山型先天性筋ジストロフィーはスプライシング病である (2010)
  • Author(s): 谷口真理子、小林千浩、金川基、戸田 達史
  • Organizer: 筋ジストロフィー総合班会議
  • Place of Presentation: 東京
  • Year and Date: 2010-01-15
• [Presentation] 福山型先天性筋ジストロフィーはスプライシング病である (2009)
  • Author(s): 谷口真理子、小林千浩、金川基、戸田 達史
  • Organizer: 砂田班班会議
  • Place of Presentation: 東京、日本
• [Presentation] Residual laminin -binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy (2009)
  • Author(s): Taniguchi, M., Kanagawa, M., (3) Kobayashi, K., Campbell, K.P., Toda, T.
  • Organizer: 20th Glycobiology Joint Meeting
  • Place of Presentation: Koln, Germany
• [Presentation] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycano pathy (2009)
  • Author(s): Taniguchi, M., Kanagawa, M., (4), Campbell, K.P., Toda, T.
  • Organizer: The American Society of Human Genetics
  • Place of Presentation: Hawaii, USA
• [Presentation] Residual laminin-binding activity and enhanceddystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy (2009)
  • Author(s): Taniguchi, M., Kanagawa, M., Miyagoe-Suzuki, Y., Takeda, S., Endo, T., Kobayashi, K., Campbell, K.P., Toda, T.
  • Organizer: The 15th World Muscle Society Genova
  • Place of Presentation: Switzerand
• [Presentation] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. (2009)
  • Author(s): Mariko Taniguchi
  • Organizer: 米国人類遺伝学会
  • Place of Presentation: ハワイ、アメリカ合衆国
• [Presentation] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. (2009)
  • Author(s): Mariko Taniguchi
  • Organizer: The 15^<th> World Muscle Society
  • Place of Presentation: ジュネーブ、スイス
• [Book] 小児の症候群、cat eye症候群、Coffin-Siris症候群、Cohen症候群、小児科診療 (2009)
  • Publisher: 診断と治療社
• [Book] 先天性筋ジストロフィー8月号(小児内科、小児科医のための遺伝学) (2008)
  • Publisher: 東京医学社
• [Remarks]
  • URL: http://www.fbs.osaka-u.ac.jp/organellenetwork/index.php