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

2009 Fiscal Year Final Research Report

• 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
• 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

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
• [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
  • Year and Date: 20091211-20091212
• [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
  • Year and Date: 20091108-20091110
• [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
  • Year and Date: 20091020-20091024
• [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
  • Year and Date: 20090909-20090913
• [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