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Clinicopathological features and autophagic pathway of autophagic vacuolar myopathy and

Research Project

Project/Area Number 25461323
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionNara Medical University

Principal Investigator

Sugie Kazuma  奈良県立医科大学, 医学部, 准教授 (60347549)

Co-Investigator(Kenkyū-buntansha) NISHINO ICHIZO  国立精神・神経医療研究センター, 神経研究所疾病研究第一部, 部長 (00332388)
UENO SATOSHI  奈良県立医科大学, 神経内科, 教授 (40184949)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords自己貪食空胞性ミオパチー / 自己貪食空胞 / オートファジー / Danon病 / LAMP-2 / ライソゾーム / ミオパチー / ライソソーム
Outline of Final Research Achievements

Danon disease, an X-linked dominant vacuolar cardiomyopathy and skeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). The clinical features and the prevalences of Danon disease have not been well established. On a nationwide survey, we identified 28 Danon disease patients (16 men and 12 women). Hypertrophic cardiomyopathy (HCM) was documented in most men, while dilated cardiomyopathy was more common among women. Pathologically, we found autophagic vacuoles with sarcolemmal features (AVSF) and LAMP-2 deficiency in muscle fibers. AVSF expressed virtually all sarcolemmal proteins on their vacuolar membranes. In addition, variable proteins associated with autophagic pathway were expressed in AVSF. In conclusion, Danon disease is a very rare muscular disorder and may be primarily caused by lysosomal dysfunctions. Cardiomyopathy is the most important prognostic factor and the main cause of death among Danon disease patients.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (22 results)

All 2016 2015 2014 2013

All Journal Article (12 results) (of which Peer Reviewed: 12 results,  Acknowledgement Compliant: 2 results,  Open Access: 6 results) Presentation (8 results) (of which Int'l Joint Research: 1 results) Book (2 results)

  • [Journal Article] Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.2016

    • Author(s)
      Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S.
    • Journal Title

      Neuropathology

      Volume: X Issue: 6 Pages: 561-565

    • DOI

      10.1111/neup.12307

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Sporadic Inclusion Body Myositis Presenting with Beevor's Sign2015

    • Author(s)
      Sugie K, Kumazawa A, Ueno S.
    • Journal Title

      Internal Medicine

      Volume: 54 Issue: 21 Pages: 2793-2794

    • DOI

      10.2169/internalmedicine.54.5002

    • NAID

      130005106622

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.2015

    • Author(s)
      Sugie K, Sugie M, Taoka T, Tonomura Y, Kumazawa A, Izumi T, Kichikawa K, Ueno S.
    • Journal Title

      PLoS One.

      Volume: 10 Issue: 4 Pages: e0125051-e0125051

    • DOI

      10.1371/journal.pone.0125051

    • Related Report
      2015 Annual Research Report 2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic profile for suspected dysferlinopathy identified by targeted next generation sequencing2015

    • Author(s)
      Izumi R, Niihori T, Takahashi T, Suzuki N, Tateyama M, Watanabe C, Sugie K, Nakanishi H, Sobue G, Kato M, Warita H, Aoki Y, Aoki M
    • Journal Title

      Neurol Genet

      Volume: 1(4) Issue: 4

    • DOI

      10.1212/nxg.0000000000000036

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Characteristic dysphagia as a manifestation of dermatomyositis on oropharyngeal muscle imaging.2015

    • Author(s)
      Eura N, Sugie K, Kiriyama T, Ueno S.
    • Journal Title

      J Clin Rheumatol

      Volume: 21 Issue: 2 Pages: 105-106

    • DOI

      10.1097/rhu.0000000000000225

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Beevor’s sign and protuberant abdomen in sIBM2015

    • Author(s)
      Sugie K, Kumazawa A, Ueno S.
    • Journal Title

      Intern Med

      Volume: 54

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Danon disease: a phenotypic expression of LAMP-2 deficiency.2015

    • Author(s)
      Endo Y, Furuta A, Nishino I.
    • Journal Title

      Acta Neuropathol.

      Volume: 129 Issue: 3 Pages: 391-8

    • DOI

      10.1007/s00401-015-1385-4

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Characteristic dysphagia as a manifestation of dermatomyositis on oropharyngeal muscle imaging.2014

    • Author(s)
      Eura N, Sugie K, Kiriyama T, Ueno S.
    • Journal Title

      J Clin Rheumatol

      Volume: -

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).2014

    • Author(s)
      Cho A, et al.
    • Journal Title

      J Neurol Neurosurg Psychiatry.

      Volume: 85 Issue: 8 Pages: 914-917

    • DOI

      10.1136/jnnp-2013-305587

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] GNE myopathy: A prospective natural history study of disease progression.2014

    • Author(s)
      Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M.
    • Journal Title

      Neuromuscul Disord

      Volume: 24 Issue: 5 Pages: 380-386

    • DOI

      10.1016/j.nmd.2014.02.008

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.2013

    • Author(s)
      Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I.
    • Journal Title

      Neuromuscul Disord

      Volume: 23 Issue: 3 Pages: 269-276

    • DOI

      10.1016/j.nmd.2012.12.010

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Clinicopathological and neuroradiological features of myopathy associated with antibodies to signal recognition particle (SRP).2013

    • Author(s)
      Sugie K, Eura N, Kobayashi Y, Sawa N, Ueno S.
    • Journal Title

      Eur J Intern Med

      Volume: 24

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.2015

    • Author(s)
      Sugie K, Sugie M, Taoka T, Tonomura Y, Kumazawa A, Izumi T, Kichikawa K, Ueno S.
    • Organizer
      The 20th International Congress of the World Muscle Society (WMS 2015)
    • Place of Presentation
      Brighton, England
    • Year and Date
      2015-09-30
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 筋強直性ジストロフィー1型における上肢骨格筋障害の神経放射線学的検討.2015

    • Author(s)
      杉江和馬、杉江美穂、田岡俊昭、殿村恭代、熊澤 綾、泉 哲石、吉川公彦、上野 聡.
    • Organizer
      第1回日本筋学会総会
    • Place of Presentation
      東京
    • Year and Date
      2015-08-08
    • Related Report
      2015 Annual Research Report
  • [Presentation] Incidence and risk factors of stroke associated with myotonic dystrophy type 1.2015

    • Author(s)
      杉江和馬、江浦信之、杉江美穂、岩佐直毅、小原啓弥、泉 哲石、形岡博史、上野 聡.
    • Organizer
      第56回日本神経学会学術集会
    • Place of Presentation
      新潟市
    • Year and Date
      2015-05-20
    • Related Report
      2015 Annual Research Report
  • [Presentation] KL-6/MUC1 is a novel diagnostic marker for GNE-myopathy.2014

    • Author(s)
      Kurashige T, Takahashi T, Nagano Y, Sugie K, Watanabe C, Maruyama H, Ueno S, Matsumoto M.
    • Organizer
      The 19th International Congress of the World Muscle Society
    • Place of Presentation
      ドイツ・ベルリン
    • Year and Date
      2014-10-07 – 2014-10-10
    • Related Report
      2014 Research-status Report
  • [Presentation] A nationwide survey of Danon disease in Japan.2014

    • Author(s)
      Sugie K, Komaki H, Eura N, Nonaka I, Ueno S, Nishino I.
    • Organizer
      The 13th International Congress on Neuromuscular Diseases (ICNMD XIII)
    • Place of Presentation
      フランス・ニース
    • Year and Date
      2014-07-05 – 2014-07-10
    • Related Report
      2014 Research-status Report
  • [Presentation] Clinicopathological and neuroradiological features of myopathy associated with antibodies to signal recognition particle (SRP)2013

    • Author(s)
      Sugie K, Eura N, Kobayashi Y, Sawa N, Ueno S.
    • Organizer
      The 12th European Congress of Internal Medicine (EFIM 2013)
    • Place of Presentation
      チェコ プラハ
    • Related Report
      2013 Research-status Report
  • [Presentation] MUC1 is associated with the pathogenesis of GNE-myopathy.2013

    • Author(s)
      7. Kurashige T, Takahashi T, Nagano Y, Kushitani K, Sugie K, Ueno S, Matsumoto M.
    • Organizer
      The 18th International Congress of World Muscle Society
    • Place of Presentation
      USA カリフォルニア アシロマー
    • Related Report
      2013 Research-status Report
  • [Presentation] 抗SRP抗体陽性ミオパチーの臨床病理学的および神経放射線学的検討2013

    • Author(s)
      9. 杉江和馬、江浦信之、小林恭代、澤 信宏、形岡博史、上野 聡
    • Organizer
      第54回日本神経学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Book] Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition2014

    • Author(s)
      Sugie K, Nishino I.
    • Total Pages
      1424
    • Publisher
      Elsevier, Amsterdam, Nederland
    • Related Report
      2014 Research-status Report
  • [Book] 神経症候群III(第2版)-その他の神経疾患を含めて-2014

    • Author(s)
      杉江和馬
    • Publisher
      日本臨床社
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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