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Treatment of distal myopathy caused by GNE gene aberration

Research Project

Project/Area Number 20591005
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionOita University

Principal Investigator

KUMAMOTO Toshihide  Oita University, 医学部, 教授 (40134936)

Co-Investigator(Kenkyū-buntansha) KIMURA Noriyuki  大分大学, 医学部, 講師 (30433048)
HAZAMA Yusuke  大分大学, 医学部, 助教 (80448547)
OKAZAKI Toshio  大分大学, 医学部, 助教 (00464438)
ARAKAWA Ryuki  大分大学, 医学部, 助教 (90363548)
Research Collaborator NAKAMURA Kenichiro  大分大学, 医学部, 大学院生
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords遠位型ミオパチー / rimmed vacuoles / リソソーム / ユビキチン・プロテアゾーム / GNE / マイクロアレイ / nNOS / IGF-1 / atrogin-1 / MuRF-1
Research Abstract

GNE was exclusively present in the cytoplasm of mutant GNE gene-transfected cells, which showed normal appearance. Specific 116 genes were detected in GNE-knocked down cells by oligonucleotide microarray. GNE may play a certain role in muscle fiber regeneration.The ubiquitin-proteasome proteolysis pathway as well as lysosomal-proteolysis pathway may mediate the muscle fiber destraction in rimmed vacuolar myopathy such as distal myopathy with rimmed vacuoles and chloroquine-indeced myopathy. IGF-1 treatment may suppress the overdevelopment of rimmed vacuoles in those myopathies.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (40 results)

All 2011 2010 2009 2008

All Journal Article (20 results) (of which Peer Reviewed: 14 results) Presentation (13 results) Book (7 results)

  • [Journal Article] Induction of GNE in myofibers after muscle injury2010

    • Author(s)
      Nakamura K, Tsukamoto Y, Hijiya N, Higuchi Y, Yano S, Yokoyama S, Kumamoto T, Moriyama M
    • Journal Title

      Patho-biology 77(4)

      Pages: 191-199

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Successful treatment with tacrolimus of progressive inters-titial pneumonia associated with amyopathic dermatomyositis refractory to cyclosporine2010

    • Author(s)
      Ando M, Miyazaki E, Yamasue M, Sadamura Y, Ishii T, Takenaka R, Ito T, Nureki S, Kumamoto T
    • Journal Title

      Clin Rheumatol 29(4)

      Pages: 443-445

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] 感染性筋炎2010

    • Author(s)
      熊本俊秀
    • Journal Title

      Clin Neurosci 28(3)

      Pages: 340-342

    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Journal Article] Improvement of deficient natural killer activity and delayed bacterici-dal activity by a thiol proteinase inhibitor, E-64-d, in leukocytes from Chediak-Higashi syndrome patients in vitro2010

    • Author(s)
      Tanabe F, Kasai H, He L, Kin T, Fujikado T, Kumamoto T, Hara T, Iwata T, Ito M
    • Journal Title

      Int Immunopharmacol 9(3)

      Pages: 366-370

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Salivary chromo-granin A : useful and quantitative biochemical marker of affective state in patients with amyotrophic lateral sclerosis2010

    • Author(s)
      Obayashi K, Sato K, Shimazaki R, Ishikawa T, Goto K, Ueyama H, Mori T, Ando Y, Kumamoto T
    • Journal Title

      Intern Med 47(21)

      Pages: 1875-1879

    • NAID

      130000079584

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Induction of GNE in myofibers after muscle injury.2010

    • Author(s)
      Nakamura K, Tsukamoto Y, Hijiya N, Higuchi Y, Yano S, Yokoyama S, Kumamoto T, Moriyama M
    • Journal Title

      Pathobiology

      Volume: 77(4) Pages: 191-199

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Successful treatment with tacrolimus of progressive interstitial pneumonia associated with amyopathic dermatomyositis refractory to cyclosporine.2010

    • Author(s)
      Ando M, Miyazaki E, Yamasue M, Sadamura Y, Ishii T, Takenaka R, Ito T, Nureki S, Kumamoto T
    • Journal Title

      Clin Rheumatol

      Volume: 29(4) Pages: 443-445

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 感染性筋炎2010

    • Author(s)
      熊本俊秀
    • Journal Title

      Clin Neurosci

      Volume: 28(3) Pages: 340-342

    • Related Report
      2010 Annual Research Report
  • [Journal Article] Induction of GNE in myofibers after muscle injury2010

    • Author(s)
      Nakamura K, Tsukamoto Y, Hijiya N, Higuchi Y, Yano S, Yokoyama S, Kumamoto T, Moriyama M
    • Journal Title

      Pathobiology (in press)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehy-drogenase deficiency2009

    • Author(s)
      Korematsu S, Kosugi Y, Kumamoto T, Yamaguchi S, Izumi T
    • Journal Title

      Pediatr Neurol 41(2)

      Pages: 151-153

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Role of ubiquitin-proteasome proteolysis in muscle fiber destruc-tion in experimental chloroquine-induced myopathy2009

    • Author(s)
      Kimura N, Kumamoto T, Oniki T, Nomura M, Nakamura K, Abe Y, Hazama Y, Ueyama H
    • Journal Title

      Muscle Nerve 39(4)

      Pages: 521-528

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] 診断基準の評価と今後検討すべき課題神経・筋サルコイドーシスの視点から2009

    • Author(s)
      熊本俊秀
    • Journal Title

      日サ会誌 29(1)

      Pages: 81-82

    • NAID

      130001930652

    • Related Report
      2010 Final Research Report
  • [Journal Article] Novel mutation of early, perinatal-onset, myopathic-type very-long-chainacyl-CoA dehydrogenase deficiency2009

    • Author(s)
      Korematsu S, Kosugi Y, Kumamoto T, Yamaguchi S, Izumi T
    • Journal Title

      Pediatr Neurol 41(2)

      Pages: 151-153

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Role of ubiquitin-proteasome proteolysis in muscle fiber destruction in experimental chloroquine-induced myopathy2009

    • Author(s)
      Kimura N, Kumamoto T, Oniki T, Nomura M, Nakamura K, Abe Y, Hazama Y, Ueyama H
    • Journal Title

      Muscle Nerve 39(4)

      Pages: 521-528

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Improvement of deficient natural killer activity and delayed bactericidal activity by athiol proteinase inhibitor, E-64-d, in leukocytes from Chediak-Higashi syndrome patients in vitro2009

    • Author(s)
      Tanabe F, Kasai H, He L, Kin T, Fujikado T, Kumamoto T, Hara T, Iwata T, Ito M
    • Journal Title

      Int Immunopharmacol 9(3)

      Pages: 366-370

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 診断基準の評価と今後検討すべき課題:神経・筋サルコイドーシスの視点から2009

    • Author(s)
      熊本俊秀
    • Journal Title

      日サ会誌 29(1)

      Pages: 81-82

    • NAID

      130001930652

    • Related Report
      2009 Annual Research Report
  • [Journal Article]2009

    • Author(s)
      熊本俊秀
    • Journal Title

      EBM神経疾患の治療2009-2010、多発筋炎と皮膚筋炎の治療(岡本幸市、棚橋紀夫、水澤英洋編)(中外医学社、東京)

      Pages: 556-561

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Role of ubiquitin-proteasome proteolysis in musclefiber destruction in experimental chloroquine-inducedmyopathy2009

    • Author(s)
      Kimura N
    • Journal Title

      Muscle Nerve 39(4)

      Pages: 521-528

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 筋肉サルコイドーシスの臨床と筋の崩壊機構2008

    • Author(s)
      熊本俊秀
    • Journal Title

      日サ会誌 28

      Pages: 23-51

    • Related Report
      2010 Final Research Report 2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 障害部位・病態による臨床病型 : 筋の障害2008

    • Author(s)
      熊本俊秀
    • Journal Title

      日内会誌 94

      Pages: 1784-1789

    • Related Report
      2008 Annual Research Report
  • [Presentation] Induction of GNE in myofibers after muscle injury.2010

    • Author(s)
      Nakamura K, Kumamoto T, Moriyama M
    • Organizer
      15th International Congress of the World Muscle Society.
    • Place of Presentation
      Kumamoto.
    • Year and Date
      2010-10-13
    • Related Report
      2010 Final Research Report
  • [Presentation] Induction of GNE in myofibers after muscle injury.2010

    • Author(s)
      Nakamura K, Kumamoto T, Moriyama M
    • Organizer
      15th International Congress of the World Muscle Society
    • Place of Presentation
      Kumamoto
    • Year and Date
      2010-10-13
    • Related Report
      2010 Annual Research Report
  • [Presentation] サルコイドーシスの経過中に四肢筋力低下、筋萎縮を認め、慢性ミオパチー型筋サルコイドーシスと考えられた1例2010

    • Author(s)
      竹丸誠、岡崎敏郎、近澤亮、薮内健一、花岡拓哉、中村憲一郎、荒川竜樹、木村成志、熊本俊秀
    • Organizer
      第30回日本サルコイドーシス/肉芽腫性疾患学会総会
    • Place of Presentation
      浜松
    • Year and Date
      2010-10-02
    • Related Report
      2010 Annual Research Report
  • [Presentation] Role of ubiquitin-proteasome proteolysis in muscle fiber destruc-tion in experimental chloroquine-induced myopathy.2010

    • Author(s)
      Kumamoto T, Kimura N, Oniki T, Nomura M, Nakamura K, Abe Y, Hazama Y, Ueyama H
    • Organizer
      12th International Congress on Neuromuscular Diseases
    • Place of Presentation
      Naples.
    • Year and Date
      2010-07-18
    • Related Report
      2010 Final Research Report
  • [Presentation] Expression of VCP in (muscle fibers of) experimental chloroquine-induced myopathy.2010

    • Author(s)
      Aso Y, Sawada K, Masuda T, Hazama Y, Nakamura K, Kimura N, Kumamoto T
    • Organizer
      12th International Congress on Neuromuscular Diseases
    • Place of Presentation
      Naples.
    • Year and Date
      2010-07-18
    • Related Report
      2010 Final Research Report
  • [Presentation] Role of ubiquitin-proteasome proteolysis in muscle fiber destruction in experimental chloroquine-induced myopathy.2010

    • Author(s)
      Kumamoto T, Kimura N, Oniki T, Nomura M, Nakamura K, Abe Y, Hazama Y, Ueyama H
    • Organizer
      12th International Congress on Neuromuscular Diseases
    • Place of Presentation
      Naples
    • Year and Date
      2010-07-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] Expression of VCP in (muscle fibers of) experimental chloroquine-induced myopathy.2010

    • Author(s)
      Aso Y, Sawada K, Masuda T, Hazama Y, Nakamura K, Kimura N, Kumamoto T
    • Organizer
      12th International Congress on Neuromuscular Diseases
    • Place of Presentation
      Naples
    • Year and Date
      2010-07-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] 神経・筋サルコイドーシスの診断基準の評価と今後の課題2010

    • Author(s)
      熊本俊秀、増田曜章、岡崎敏郎、花岡拓哉、荒川竜樹、迫祐介、木村成志
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-16
    • Related Report
      2010 Annual Research Report
  • [Presentation] ALSの脊髄前角運動ニューロンにおけるpNFの蓄積および細胞変性へのユビキチン・プロテアゾーム系の関与2009

    • Author(s)
      木村成志、野村有希、増田曜章、岡崎敏郎、迫祐介、花岡拓哉、中村憲一郎、荒川竜樹、熊本俊秀
    • Organizer
      第50回日本神経病理学会学術研究会
    • Place of Presentation
      高松
    • Year and Date
      2009-06-04
    • Related Report
      2010 Final Research Report
  • [Presentation] 空胞形成ミオパチーの筋崩壊における-酸化窒素合成酵素と酸化ストレスの動態2009

    • Author(s)
      増田曜章、兒玉憲人、新川雄高、迫祐介、中村憲一郎、木村成志、熊本俊秀
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Related Report
      2010 Final Research Report
  • [Presentation] 正常マウス及びヒト組織におけるGNE蛋白質の発現分布2009

    • Author(s)
      中村憲一郎、熊本俊秀、守山正胤
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] 空胞形成ミオパチーの筋崩壊における一酸化窒素合成酵素と酸化ストレスの動態2009

    • Author(s)
      増田曜章、兒玉憲人、新川雄高、迫祐介、中村憲一郎、木村成志、熊本俊秀
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Related Report
      2009 Annual Research Report
  • [Presentation] IGFによるrimmed vacuolar myopathyの治療の試み2008

    • Author(s)
      迫祐介、高柳義和、安部芳武、中村憲一郎、木村成志、熊本俊秀
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2008-05-17
    • Related Report
      2010 Final Research Report 2008 Annual Research Report
  • [Book] 糖尿病性筋萎縮症の概念・診断・管理糖尿病合併症-鑑別ポイントとベスト管理法(西川武志編)2011

    • Author(s)
      熊本俊秀
    • Publisher
      中山書店
    • Related Report
      2010 Final Research Report
  • [Book] 側頭動脈炎、今日の診断指針、第6版(金澤一郎、永井良三編)2010

    • Author(s)
      熊本俊秀
    • Publisher
      医学書院
    • Related Report
      2010 Final Research Report
  • [Book] 多発筋炎・皮膚筋炎、神経疾患最新の治療2009-2100(小林祥泰、水澤英洋編)2009

    • Author(s)
      熊本俊秀
    • Publisher
      南江堂
    • Related Report
      2010 Final Research Report
  • [Book] 多発筋炎と皮膚筋炎の治療、EBM神経疾患の治療2009-2010(岡本幸一, 他編)2009

    • Author(s)
      熊本俊秀
    • Publisher
      中外医学社
    • Related Report
      2010 Final Research Report
  • [Book] 多発筋炎・皮膚筋炎, 神経疾患最新の治療2009-2011 (小林祥泰、水澤英洋編)2009

    • Author(s)
      熊本俊秀
    • Publisher
      南 江 堂
    • Related Report
      2008 Annual Research Report
  • [Book] 先天性ミオパチー、最新神経病学(荒木淑郎編)2008

    • Author(s)
      熊本俊秀
    • Publisher
      金芳堂
    • Related Report
      2010 Final Research Report
  • [Book] 先天性ミオパチー. 最新神経病学(荒木淑郎編)2008

    • Author(s)
      熊本俊秀
    • Publisher
      金 芳 堂
    • Related Report
      2008 Annual Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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