Genes responsible for mental retardation complicating to Duchenne muscular dystrophy

• Project/Area Number: 21390311
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kobe Gakuin University (2011); Kobe University (2009-2010)
• Principal Investigator: MATSUO Masafumi 神戸学院大学, 総合リハビリテーション学部, 教授 (10157266)
• Co-Investigator(Kenkyū-buntansha): TAKESHIMA Yasuhiro 神戸大学, 大学院・医学研究科, 特命教授 (40281141) ; YAGI Mariko 神戸大学, 大学院・医学研究科, 特命教授 (60362787) ; AWANO Hiroyuki 神戸大学, 大学院・医学研究科, 特命助教 (30437470)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥18,200,000 (Direct Cost: ¥14,000,000、Indirect Cost: ¥4,200,000); Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2010: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000); Fiscal Year 2009: ¥10,530,000 (Direct Cost: ¥8,100,000、Indirect Cost: ¥2,430,000)
• Keywords: ジストロフィン / 精神発達遅滞 / Duchenne型筋ジストロフィー / 分子種

Research Abstract

DMD is characterized by high incidence of complication of mental retardation, although it is s progressive muscle wasting disease. Here, we have identified a new variant of R-dystrophin. In addition, a new transcript from the dystrophin gene was cloned.

Research Products

• [Journal Article] Pathogenic orphan transduction created by a non-reference LINE-1retrotransposon (2012)
  • Author(s): Solyom S, Ewing AD, Hancks DC, Takeshima Y, Awano H, Matsuo M, Kazazian H Jr
  • Journal Title: Hum. Mutat Volume: 33 Pages: 369-371
• [Journal Article] athogenic orphan transduction created by a non-reference LINE-1 retrot ransposon (2012)
  • Author(s): Solyom S, Ewing AD, Hancks DC, Takeshima Y, Awano H, Matsuo M, Kazazian HH Jr
  • Journal Title: Hum.Mutat Volume: 33 Pages: 369-371
  • Peer Reviewed
• [Journal Article] Moleculaar chaaracterizatioon of the 5'-UUTR of retinnal dysstrophin reveals a cryptiic intron thaat reggulates transslational acttivity (2010)
  • Author(s): Kubokawa, I., Takeshima, Y., Ota, M., Enomoto, M., Okizuka, Y., Mori, T., Nishimura, N., Awano, H., Yagi, M., Matsuo, M
  • Journal Title: Mol Vis Volume: 16 Pages: 2590-2597
• [Journal Article] Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity (2010)
  • Author(s): Kubokawa, I., Takeshima, Y., Ota, M., Enomoto, M., Okizuka, Y., Mori, T., Nishimura, N., Awano, H., Yagi, M., Matsuo, M.
  • Journal Title: Molecular vision Volume: 16 Pages: 2590-2597
  • Peer Reviewed
• [Journal Article] Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene (2009)
  • Author(s): Zhang Z., Matsuo, M., et al
  • Journal Title: J Him Genet 54(8) Pages: 466-73
  • Peer Reviewed
• [Presentation] Genotype-phenotype correlation of the dystrophinopathy cases with small mutations in the dystrophin gene (2010)
  • Author(s): Awano H, Takeeshima Y, YaYagi M, Yamaauchi Y, MMalueka RGG, Dwianingssih EK, Maatsuo M
  • Organizer: Pediatric Academic Societies. 2010 Annual Meeting
  • Place of Presentation: Vancouver
• [Presentation] Chemical treatment of muscular dystrophy that enhances skiping of the mutated exon in the dystrophin gene (2010)
  • Author(s): Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M
  • Organizer: The American Society of Human Genetics60th Anual Meeting
  • Place of Presentation: Washigton, DC
• [Presentation] Evolutionary acquired alternative splicing in the 5'-UTR of retinal dystrophin transcript is a default pathway with weaker translational activity than nonspliced retina specific form
  • Author(s): Kubokawa I, Yagi M, Awano H, Ota M, Nishida A, Dwianingsih EK, Malueka RG, Takeshima Y, Matsuo M
• [Remarks]
  • URL: http://www.kobegakuin.ac.jp/general-information/soran/08_rehabilitation/matsuo.html