Study for the pathomechanism of autophagy in autophagic vacuolar myopathy

• Project/Area Number: 19700327
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Nerve anatomy/Neuropathology
• Research Institution: Nara Medical University
• Principal Investigator: SUGIE Kazuma Nara Medical University, 神経内科, 講師 (60347549)
• Project Period (FY): 2007 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥2,870,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥270,000); Fiscal Year 2008: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2007: ¥1,700,000 (Direct Cost: ¥1,700,000)
• Keywords: 自己貪食空胞 / オートファジー / Danon 病 / 自己貪食空胞性ミオパチー / ミオパチー / Danon病 / リソソーム / 心筋症

Research Abstract

細胞内での蛋白分解を担うオートファジーの異常を原因とする「自己貪食空胞性ミオパチー(AVM)」の疾患概念の確立を目指した。病理学的検討で、筋線維での特徴的な自己貪食空胞の蓄積とリソソーム・エンドソーム系の機能亢進を示した。筋変性との関連が示唆され、骨格筋でのオートファジーの解明に新しい知見を得た。主要な臨床病態の検討では、心筋症が致死性で過剰な房室伝導や心予備能の低下をきたす予後規定因子であることを明らかにした。

Research Products

• [Journal Article] Ueno S. Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy (FSHD) (2009)
  • Author(s): Sugie K, Hayashi YK, Kin T, Goto K, Nishino I
  • Journal Title: Neurology (in press)
  • Peer Reviewed
• [Journal Article] Danon病患者17家系51例における心筋障害の臨床的特徴 (2009)
  • Author(s): 杉江和馬、埜中征哉、西野一三
  • Journal Title: 心臓 41 Pages: 413-418
  • NAID: 130003376912
  • Peer Reviewed
• [Journal Article] Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy(FSHD) (2009)
  • Author(s): SuMie K, Hayashi YK, Kin T, Goto K. Nishino I. Ueno S
  • Journal Title: Neurology (In press)
  • Peer Reviewed
• [Journal Article] Danon病愚者17家系51例における心筋障害の臨床的特徴 (2009)
  • Author(s): 杉江和馬、埜中征哉、西野一三
  • Journal Title: 心臓 41 Pages: 413-418
  • Peer Reviewed
• [Journal Article] Unique autophagic vacuoles with sarcolemmal features delineate Danon disease and related autophagic vacuolar mvonathies (2008)
  • Author(s): Suzie K, Nonaka I, Nishino I
  • Journal Title: Ann of Neurology 63
  • Peer Reviewed
• [Journal Article] Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan (2007)
  • Author(s): Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I
  • Journal Title: eurology 69 Pages: 1035-1042
  • Peer Reviewed
• [Journal Article] Analyses of unique auophagic bacuoles and autophagic/lysosomal pathway in Danon disease. (2007)
  • Author(s): Susie K, Noguchi S, Ueno S, Nonaka l.Nishino I.
  • Journal Title: Ann Neurol 62 Pages: 66-66
  • Peer Reviewed
• [Journal Article] Muscle pathological analysis for autophagic/lysosomal and endosomalpatways in Danon disease (2007)
  • Author(s): Sugie K, Noguchi S, Ueno S, Nonaka I, Nishino I.
  • Journal Title: Neuromuscul Disord 17 Pages: 862-862
  • Peer Reviewed
• [Journal Article] Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan (2007)
  • Author(s): Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.
  • Journal Title: Neurology 69 Pages: 1035-1042
  • Peer Reviewed
• [Presentation] Unique autophagic vacuoles with sarcolemmal features delineate Danon disease and related autophagic vacuolar myopathies (2008)
  • Author(s): Sugie K, Nonaka I, Nishino I
  • Organizer: 133rd Annual Meeting of the American Neurological Association
  • Place of Presentation: Salt Lake City, UT
• [Presentation] Unique autophagic vacuoles with sarcolemmal features delineate Danon disease and related autophagic vacuolar myopathies (2008)
  • Author(s): Sujgie K, Nonaka I, Nishino I
  • Organizer: 133nd Annual Meeting of the American Neurological Association
  • Place of Presentation: Salt Lake City, UT
• [Presentation] Analyses of unique auophagic vacuoles and autophagic/lysosomal pathway in Danon disease (2007)
  • Author(s): Sugie K, Noguchi S, Ueno S, Nonaka I, Nishino I
  • Organizer: 132nd Annual Meeting of the American Neurological Association
  • Place of Presentation: Washington, DC
• [Presentation] Muscle pathological analysis for autophagic/lysosomal and endosomal pathways in Danon disease (2007)
  • Author(s): Sugie K, Noguchi S, Ueno S, Nonaka I, Nishino I
  • Organizer: 12th International Congress of the World Muscle Society
  • Place of Presentation: Giardini Naxos-Taormina, Sicily, Italy
• [Presentation] Analyses of unique auophagic vacuoles and autophagic/ lysosomal pathwayin Danon disease. (2007)
  • Author(s): Sugie k, Noguchi S, Ueno S, Nonaka I, Nishino I.
  • Organizer: 132nd Annual Meeting of the American Neurological Association
  • Place of Presentation: Washington,DC,
• [Presentation] Muscle pathological analysis for autophagic/ lysosomal and endosomal pathwaysin Danon disease. (2007)
  • Author(s): Sugie K.Noguchi S, Ueno S, Nonaka l, Nishino l.
  • Organizer: 12th International Congress of the World Muscle Society
  • Place of Presentation: Giardini Naxos-Taormina,Sicily,Italy,