Clinical and molecular studies of Emery-Dreifuss muscular dystrophy

2008 Fiscal Year Final Research Report

• Project/Area Number: 18390265
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: HAYASHI Yukiko National Center of Neurology and Psychiatry, 神経研究所疾病研究第一部, 室長 (50238135)
• 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) ; 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) ; NONAKA Ikuya 国立精神・神経センター, 神経研究所, 名誉所員 (80040210)
• Project Period (FY): 2006 – 2008
• Keywords: 核膜 / 筋ジストロフィー / 臨床 / 遺伝子 / 細胞・組織 / 病理 / シグナル伝達

Research Abstract

核膜関連筋疾患であるエメリー・ドレイフス型筋ジストロフィー(EDMD)について臨床・病理・分子細胞生物学的検討をおこない、本邦におけるEDMD の臨床・遺伝学的特徴を明らかにするとともに、EMD 変異による新たな臨床病型の発見し、また新たな原因遺伝子を同定した。詳細な筋病理学的・細胞生物学的解析に基づき、核膜病に特徴的な核の変化と筋のジストロフィー変化との関連についても新たな知見を得た。

Research Products

• [Journal Article] Autophagic degradation of nuclear components in mammalian cells (2009)
  • Author(s): Park YE, Hayashi YK, Bonne, G, Arimura T, Noguchi S, Nonaka I, Nishino I.
  • Journal Title: Autophagy 5巻(in press) Pages: 0
  • Peer Reviewed
• [Journal Article] A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI (2009)
  • Author(s): Murakami T, Hayashi YK, Ogawa M, Noguchi S, Campbell KP, Togawa M, Inoue T, Oka A, Ohno K, Nonaka I, Nishino I
  • Journal Title: Brain Dev 31巻 Pages: 465-468
  • Peer Reviewed
• [Journal Article] Novel FHL1 mutations in fatal and benign reducing body myopathy (2009)
  • Author(s): Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I
  • Journal Title: Neurology 72巻 Pages: 375-376
  • Peer Reviewed
• [Journal Article] Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B (2009)
  • Author(s): Park YE, Hayashi YK, Goto K, Komaki H, Hayashi Y, Inuzuka T, Noguchi S, Nonaka I, Nishino I.
  • Journal Title: Neuromuscul Disord 19巻 Pages: 29-36
  • Peer Reviewed
• [Journal Article] Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1) (2008)
  • Author(s): Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
  • Journal Title: Neuromuscul Disord 18巻 Pages: 959-961
  • Peer Reviewed
• [Journal Article] Affixin activates Rac1 via bPIX in C2C12 myoblast (2008)
  • Author(s): Matsuda C, Kameyama K, Suzuki A, Mishima W, Yamaji S, Okamoto H, Nishino I, Hayashi YK.
  • Journal Title: FEBS Letters 582巻 Pages: 1189-1196
  • Peer Reviewed
• [Journal Article] Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan (2007)
  • Author(s): Astejada, MN, Goto K, Nagano A, Ura S, Noguchi S, Nonaka I, Nishino I, Hayashi YK
  • Journal Title: Acta Myol 26巻 Pages: 159-164
• [Journal Article] Activation of MAPK in hearts of EMD null mice : similarities between mouse models of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy (2007)
  • Author(s): Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ.
  • Journal Title: Hum Mol Genet 16巻 Pages: 1884-1895
  • Peer Reviewed
• [Journal Article] Limb-girdle muscular dystrophy due to emerin gene mutations (2007)
  • Author(s): Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I
  • Journal Title: Archives of neurology 64巻 Pages: 1038-1041
  • Peer Reviewed
• [Journal Article] Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles (2006)
  • Author(s): Ozawa R, Hayashi YK, Ogawa M, Kurokawa R, Matsumoto H, Noguchi S, Nonaka I, Nishino I
  • Journal Title: Am J Pathol 168巻 Pages: 907-917
  • Peer Reviewed
• [Presentation] Nuclear changes in skeletal muscles of AD-EDMD/LGMD1B. (2008)
  • Author(s): Park YE, 他
  • Organizer: 13^<th> International Congress of the World Muscle Society (WMS)
  • Place of Presentation: イギリス
  • Year and Date: 2008-09-30
• [Presentation] Muscular dystrophies associated with nuclear envelope proteins. (2008)
  • Author(s): Hayashi YK, 他
  • Organizer: 第50回日本小児神経学会総会
  • Place of Presentation: 東京
  • Year and Date: 2008-05-30
• [Presentation] Electron microscopic analysis of myonuclei in EDMD2/LGMD1B. (2008)
  • Author(s): Park YE, 他
  • Organizer: 第50回日本小児神経学会総会
  • Place of Presentation: 東京
  • Year and Date: 2008-05-30
• [Presentation] Nuclear Changes in Muscular Dystrophy Associated with Nuclear Envelopathy. (2007)
  • Author(s): Hayashi YK, 他
  • Organizer: The 12^<th> International Congress of the World Muscle Society.
  • Place of Presentation: イタリア
  • Year and Date: 20071017-20
• [Presentation] Clinical and molecular analyses of nuclear envelopathy. (2007)
  • Author(s): Hayashi YK.
  • Organizer: 第71回日本循環器学会総会・学術集会
  • Place of Presentation: 神戸
  • Year and Date: 2007-03-16
• [Presentation] Nuclear abnormalities in nuclear envelopathy.
  • Author(s): Hayashi YK.
  • Organizer: 7^<th> Japanese-French Workshop
  • Place of Presentation: 神奈川
  • Year and Date: 10070608-09
• [Book] 小児筋疾患ハンドブック (2009)
  • Author(s): 林由起子
  • Total Pages: 116-124
  • Publisher: 診断と治療社
• [Book] 図説 分子病態学4版 (2008)
  • Author(s): 林由起子
  • Total Pages: 316-320
  • Publisher: 中外医学社