Study on the development of treatments for collagen VI related myopathy.

• Project/Area Number: 21591094
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: Kagoshima University
• Principal Investigator: HIGUCHI Itsuro 鹿児島大学, 医学部・歯学部附属病院, 講師 (80183573)
• Co-Investigator(Kenkyū-buntansha): TAKASHIMA Hiroshi 鹿児島大学, 大学院・医歯学総合研究科, 教授 (80372803) ; ARIMURA Kimiyoshi 鹿児島大学, 大学院・医歯学総合研究科, 准教授 (30140908)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2009: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 6型コラーゲン / Ullrich病 / Bethlemミオパチー / 関節拘縮 / thrombomodulin / 実験的治療 / 細胞接着 / ウルリッヒ病 / ベスレムミオパチー / collagen VI / Ullrich型先天性筋ジストロティー / 皮膚線維芽細胞 / コラーゲンVI

Research Abstract

We have been continuing a long-term follow-up of collagen VI related diseases as Ullrich disease and Bethlem myopathy. The main cause of difficulty in walking in Bethlem myopathy was joint contracture, and the ambulatory period was extended by the orthopedic treatment. We have been performing genetic analysis of genes of collagen VI and related proteins. We found that recombinant thrombomodulin can improve the adhesive capacity of fibroblasts and increase the expression of collagen VI in Ullrich disease.

Research Products

• [Journal Article] コラーゲン6型変異によるミオパチー (2011)
  • Author(s): 樋口逸郎
  • Journal Title: Brain and Nerve Volume: 63(11) Pages: 1169-1178
• [Journal Article] A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia (2011)
  • Author(s): Okamoto Y, Higuchi I, Sakiyama Y, Tokunaga S, Watanabe O, Arimura K, Nakagawa M, Takashima H.
  • Journal Title: Ann Neurol Volume: 70(3) Pages: 486-492
  • Peer Reviewed
• [Journal Article] A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy (2011)
  • Author(s): Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, Watanabe O, Hatakeyama H, Goto Y, Arimura K, Takashima H.
  • Journal Title: Acta Neuropathol Volume: 121(6) Pages: 775-783
  • Peer Reviewed
• [Journal Article] Histopathological differences between human T-lymphotropic virus type 1-positive and human T-lymphotropic virus type 1-negative polymyositis (2011)
  • Author(s): Abdullah HM, Higuchi I, Kubota R, Matsuura E, Hashiguchi A, Abdelbary NH, Inamori Y, Takashima H, Izumo S.
  • Journal Title: Clinical and Experimental Neuroimmunology Volume: 2 Pages: 12-24
  • Peer Reviewed
• [Journal Article] Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms (2011)
  • Author(s): Kato M, Nakamura M, Ichiba M, Tomiyasu A, Shimo H, Higuchi I, Ueno S, Sano A.
  • Journal Title: Neurosci Res Volume: 69 Pages: 331-336
  • Peer Reviewed
• [Journal Article] A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia (2011)
  • Author(s): Okamoto Y, Higuchi I, Sakiyama Y, et al
  • Journal Title: Ann Neurol Volume: 70 Issue: 3 Pages: 486-492
  • DOI: 10.1002/ana.22498
  • Peer Reviewed
• [Journal Article] A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy (2011)
  • Author(s): Sakiyama Y, Okamoto Y, Higuchi I, et al
  • Journal Title: Acta Neuropathol Volume: 121 Issue: 6 Pages: 775-783
  • DOI: 10.1007/s00401-011-0818-y
  • Peer Reviewed
• [Journal Article] Ullrich病の筋病理 (2009)
  • Author(s): 樋口逸郎
  • Journal Title: 神経内科 Volume: 71(4) Pages: 360-368
• [Journal Article] Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase (2009)
  • Author(s): Araya N, Arimura H, Kawahara K, Yagishita N, Ishida J, Fujii R, Aratani S, Fujita H, Sato T, Yamano Y, Higuchi I, Osame M, Nishioka K, Fukamizu A, Arimura K, Maruyama I, Nakajima T.
  • Journal Title: Int J Mol Med Volume: 24 Pages: 605-611
  • Peer Reviewed
• [Journal Article] 整形外科医に必用な筋疾患の知識 (2009)
  • Author(s): 樋口逸郎
  • Journal Title: 日本整形外科学会雑誌 Volume: 83 Pages: 218-230
• [Journal Article] 整形外科医に必用な筋疾患の知識 (2009)
  • Author(s): 樋口逸郎
  • Journal Title: 日本整形外科学会雑誌 83
• [Presentation] Immunohistochemical studies on HSP47 and vessel related proteins in inclusion body myositis and muscular dystrophies (2010)
  • Author(s): Itsuro Higuchi, Yukie Inamori, Keiko Higashi, Eiji Matsuura, Akihiro Hashiguchi, Tadafumi Shiraishi, Noriko Hirata, Kimiyoshi Arimura
  • Organizer: 12th International Congress on Neuromuscular Diseases
  • Place of Presentation: Naples
  • Year and Date: 2010-07-21
• [Presentation] Immunohistochemical studies on HSP47 and vessel related proteins in inclusion body myositis and muscular dystrophies. (2010)
  • Author(s): Itsuro Higuchi, Yukie Inamori, Keiko Higashi, Eiji Matsuura, Akihiro Hashiguchi, Tadafumi Shiraishi, Noriko Hirata, Kimiyoshi Arimura
  • Organizer: 12th International Congress on Neuromuscular Diseases
  • Place of Presentation: Naples, Italy
• [Presentation] コラーゲンVI欠損UCMD患者の皮膚線維芽細胞に対するthrombomodulinの作用 (2009)
  • Author(s): 白石匡史、樋口逸郎、橋口照人、末原雅人、丸山征郎
  • Organizer: 第50回日本神経学会総会
  • Place of Presentation: 仙台市
  • Year and Date: 2009-05-20
• [Presentation] コラーゲンVI欠損UCMD患者の皮膚線維芽細胞に対する thrombomodulin の作用 (2009)
  • Author(s): 白石匡史, 樋口逸郎, ほか
  • Organizer: 第50回日本神経学会総会
  • Place of Presentation: 仙台市