Pathomechanism of SIL1-mutated Marinesco-Sjogren syndrome

• Project/Area Number: 19591232
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Toho University (2008); National Center of Neurology and Psychiatry (2007)
• Principal Investigator: OKADA Mari Toho University, 医学部, 研究員 (80328046)
• Co-Investigator(Kenkyū-buntansha): NISHINO Ichizo 国立精神, 神経センター・神経研究所疾病研究第一部, 部長 (00332388) ; HAYASHI Yukiko 国立精神, 神経センター・神経研究所疾病研究第一部, 室長 (50238135) ; NOGUCHI Satoru 国立精神, 神経センター・神経研究所疾病研究第一部, 室長 (00370982)
• Project Period (FY): 2007 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000); Fiscal Year 2007: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: 小児神経学 / 筋病理学 / マリネスコーシェーグレン症候群 / SIL1 / Rimmed vacuoles

Research Abstract

臨床的に小脳失調, 精神発達遅滞, 先天性白内障があり, マリネスコーシェーグレン症候群と診断され, 骨格筋症状を有し, 筋生検が施行されていた患者13例全例にSIL1のホモ接合型変異を認めた. MSSは日本で3番目に多い先天性筋ジストロフィーであった. 筋病理学的には, 全例縁取り空胞を認め, nonspecific esterase染色では筋核で活性が上昇し, 電顕観察では核膜の異常が認められた.

Research Products

• [Journal Article] Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model (2009)
  • Author(s): Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.
  • Journal Title: Nat med 15 Pages: 690-695
  • Peer Reviewed
• [Journal Article] ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (2009)
  • Author(s): Liang WC, Ohkuma A, Hayashi YK, Lopez LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I.
  • Journal Title: Neuromuscul Disord 19巻 Pages: 212-216
  • Peer Reviewed
• [Journal Article] Clinical and genetic analysis of lipid storage myopathies (2009)
  • Author(s): Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, Lopez LC, Hirano M, Hayashi YK, Nonaka I, Nishino I.
  • Journal Title: Muscle Nerve 39巻 Pages: 333-342
  • Peer Reviewed
• [Journal Article] Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes (2008)
  • Author(s): Kawahara G, Ogawa M, Okada M, Malicdan MC, Goto Y, Hayashi YK, Noguchi S, Nishino I.
  • Journal Title: Muscle Nerve 38巻 Pages: 1192-1195
  • Peer Reviewed
• [Journal Article] Distal lipid storage myopathy due to PNPLA2 mutation (2008)
  • Author(s): Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I
  • Journal Title: Neuromuscul Disord 18巻 Pages: 671-674
• [Journal Article] Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan, Neurology (2007)
  • Author(s): Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.
  • Journal Title: Neurology 69巻 Pages: 1035-1042
  • Peer Reviewed
• [Journal Article] Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease (2007)
  • Author(s): Kawahara G, Okada M, Morone N, Ibarra CA, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
  • Journal Title: Neurology 69巻 Pages: 1043-1049
  • Peer Reviewed
• [Presentation] Pathomechanism of SIL1 mutated Marinesco-Sjogren syndrome (2008)
  • Author(s): Mari Okada et.al.
  • Organizer: 13th International World Muscle Society Congress
  • Place of Presentation: Newcastle, U
  • Year and Date: 2008-10-01
• [Presentation] SIL1変異を持つMarinesco-Sjogren症候群の病理学的解析 (2008)
  • Author(s): 岡田麻里, 他
  • Organizer: 第50回小児神経学会
  • Place of Presentation: 東京
  • Year and Date: 2008-05-29
• [Presentation] SILI変異を持つMarinesco-Sjogren症候群の病理学的解析 (2008)
  • Author(s): 岡田麻里, 他
  • Organizer: 第50回日本小児神経学会総会
  • Place of Presentation: 東京
• [Presentation] Pathomechanism of SILI mutated Marinesco-Sjogren syndrome (2008)
  • Author(s): Okada M, et al
  • Organizer: 第13回世界筋肉病学会
  • Place of Presentation: Newcastle, UK
• [Presentation] Rimmed vacuoles in children : highly specific indication for SIL1 mutation in Marinesco-Sjogren syndrome (2007)
  • Author(s): Mari Okada et.al.
  • Organizer: 12^<th> International World Muscle Society Congress
  • Place of Presentation: Sicily, Italy
  • Year and Date: 2007-10-19
• [Presentation] SIL1変異による本邦Marinesco-Sjogren症候群14例の臨床病理学的特徴 (2007)
  • Author(s): 岡田麻里, 他
  • Organizer: 第49回小児神経学会
  • Place of Presentation: 大阪
  • Year and Date: 2007-07-06
• [Presentation] SIL1変異による本邦Marinesco-Sjogren症候群14例の臨床病理学的特徴 (2007)
  • Author(s): 岡田 麻里, 他
  • Organizer: 第49回日本小児神経学会総会
  • Place of Presentation: 大阪
• [Presentation] Rimmed vacuoles m children; highly specific mdication in SIL1 mutatedMarinesco-Sjogren svndrome (2007)
  • Author(s): Okada M, et. al.
  • Organizer: 第12回世界筋肉病学会
  • Place of Presentation: Sicily, Italy
• [Book] 医学のあゆみ (2008)
  • Author(s): 岡田麻里
  • Total Pages: 4
  • Publisher: 医歯薬出版(株)
• [Book] 小児神経学 (2008)
  • Author(s): 岡田麻里
  • Total Pages: 4
  • Publisher: 診断と治療社
• [Book] 小児神経科専門医をめざすためのケースレビュー60 (2008)
  • Author(s): 岡田麻里
  • Total Pages: 19
  • Publisher: 診断と治療社