Clinical and molecular studies of Emery-Dreifuss muscular dystrophy

• 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
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥13,880,000 (Direct Cost: ¥11,600,000、Indirect Cost: ¥2,280,000); Fiscal Year 2008: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2007: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2006: ¥4,000,000 (Direct Cost: ¥4,000,000)
• 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 / 脳神経疾患 / マクロアレイ / マイクロマレイ

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: 0-0
  • 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
  • NAID: 10025580402
  • 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] A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI (2009)
  • Author(s): Murakami T, 他
  • Journal Title: Brain Dev. 31 Pages: 465-468
  • Peer Reviewed
• [Journal Article] Mutational Analysis of Fukutin Gene in Dilated Cardiom yopathy and Hypertrophic Cardiomyopathy (2009)
  • Author(s): Arimura T, 他
  • Journal Title: Circ J. 73 Pages: 158-161
  • 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, 他
  • Journal Title: Neuromuscul Disord 19 Pages: 29-36
  • Peer Reviewed
• [Journal Article] Novel FHL1 mutations in fatal and benign reducing body myopathy (2009)
  • Author(s): Shalaby S, 他
  • Journal Title: Neurology 72 Pages: 375-376
  • 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] Diminished binding of mutated collagen VI to the extra cellular matrix surrounding myocytes (2008)
  • Author(s): Kawahara G, 他
  • Journal Title: Muscle Nerve 38 Pages: 1192-1195
  • 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, 他
  • Journal Title: Neuromuscul Disord 18 Pages: 959-961
  • Peer Reviewed
• [Journal Article] 臨床的に三好型ミオパチーを呈した肢帯型筋ジストロフィー2A型の1例 (2008)
  • Author(s): 白藤俊彦, 他
  • Journal Title: 臨床神経学 48 Pages: 651-655
  • Peer Reviewed
• [Journal Article] 肢帯型筋ジストロフィーの心障害 (2008)
  • Author(s): 林由起子
  • Journal Title: 医学の歩み 226 Pages: 431-435
• [Journal Article] (2008)
  • Author(s): Astejada M, 他
  • Journal Title: International Encyclopedia Of Public Health(Elsevier, Amsterdam) Pages: 486-496
• [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] Limb-girdle muscular dystrophy due to emerin gene mutations. (2007)
  • Author(s): Ura S, 他
  • Journal Title: Archives of neurology 64 Pages: 1038-1041
  • Peer Reviewed
• [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, 他
  • Journal Title: Hum Mol Genet 16 Pages: 1884-1895
  • Peer Reviewed
• [Journal Article] Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association. (2007)
  • Author(s): Watanabe N, et al.
  • Journal Title: Genes Cells 12 Pages: 75-88
• [Journal Article] Familial reducing body myopathy. (2007)
  • Author(s): Osawa M, et al.
  • Journal Title: Brain Dev 29 Pages: 112-116
• [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
• [Journal Article] Malignant hyperthermia in Japan : mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. (2006)
  • Author(s): Ibarra MCA, et al.
  • Journal Title: Anesthesiology 104 Pages: 1146-1154
• [Journal Article] Central core disease is due to RYR1 mutations in more than 90% of patients (2006)
  • Author(s): Wu S, et al.
  • Journal Title: Brain 129 Pages: 1470-1480
• [Journal Article] Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. (2006)
  • Author(s): Murakami T, et al.
  • Journal Title: Ann Neurol 60 Pages: 597-602
• [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] Nuclear changes in skeletal muscles of AD-EDMD/LGMD1B (2008)
  • Author(s): Park YE, 他
  • Organizer: Congress of the World Muscle Society (WMS)
  • Place of Presentation: イギリス
  • Year and Date: 2008-09-30
• [Presentation] Novel ETFDH mutations and normal CoQ10 level in Taiwanese patients with multiple acyl-CoA dehydrogenase deficiency (2008)
  • Author(s): Liang WC, 他
  • Organizer: Congress of the World Muscle Society (WMS)
  • Place of Presentation: イギリス
  • Year and Date: 2008-09-30
• [Presentation] D4Z4 repeat number and skeletal muscle changes in FSHD (2008)
  • Author(s): Hayashi YK, 他
  • Organizer: Congress of the World Muscle Society (WMS)
  • Place of Presentation: イギリス
  • Year and Date: 2008-09-30
• [Presentation] Altered interaction of mutant lamin A and barrier to autointegration factor (BAF) (2008)
  • Author(s): Matsuda C, 他
  • Organizer: 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] 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/LG MD1B (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] 乳幼児筋炎は lamin A/C遺伝子変異を伴った Emery-Dreifuss 型筋ジストロフィーを示唆する (2008)
  • Author(s): 小牧宏文, 他
  • Organizer: 第50回日本小児神経学会総会
  • Place of Presentation: 東京
  • Year and Date: 2008-05-29
• [Presentation] 本邦における肢帯型筋ジストロフィーの病型頻度とその特徴 (2008)
  • Author(s): 林由起子, 他
  • Organizer: 第49回日本神経学会総会
  • Place of Presentation: 横浜
  • Year and Date: 2008-05-17
• [Presentation] Alpha-dystroglycanopathies in Japan (2008)
  • Author(s): Nishino I
  • Organizer: International Workshop on Muscular Dystrophies
  • Place of Presentation: アメリカ
  • Year and Date: 2008-05-15
• [Presentation] 高齢発症の limb girdle musculardystrophy (LGMD) 2D型 (2008)
  • Author(s): 浦茂久, 他
  • Organizer: 第49回日本神経学会総会
  • Place of Presentation: 横浜
  • Year and Date: 2008-05-15
• [Presentation] Marinesco-Sjogren syndrome due to SIL1 mutations is characterized by rimmed vacuolar myopathy with outer nuclear membrane abnormality (2008)
  • Author(s): Nishino I, 他
  • Organizer: 60th Annual Meeting of American Academy of Neurology
  • Place of Presentation: アメリカ
  • Year and Date: 2008-04-17
• [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 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
• [Presentation] 核膜関連筋疾患における核の異常についての検討. (2007)
  • Author(s): 林 由起子, 他
  • Organizer: 第48回日本神経学会総会
  • Place of Presentation: 名古屋
• [Presentation] エメリン遺伝子異常による肢帯型筋ジストロフィー(LGMD). (2007)
  • Author(s): 浦茂 久, 他
  • Organizer: 第48回日本神経学会総会
  • Place of Presentation: 名古屋
• [Presentation] Nuclear abnormalities in nuclear envelopathy. (2007)
  • Author(s): Yukiko K. Hayashi
  • Organizer: 7th Japanese-French Workshop
  • Place of Presentation: 神奈川
• [Presentation] Nuclear Changes in Muscular Dystrophy Associated with Nuclear Envelopathy. (2007)
  • Author(s): Yukiko K. Hayashi, et. al.
  • Organizer: The 12th International World Muscle Society Congress.
  • Place of Presentation: イタリア
• [Presentation] Nuclear abnormalities in nuclear envelopathy.
  • Author(s): Hayashi YK.
  • Organizer: 7^<th> Japanese-French Workshop
  • Place of Presentation: 神奈川
• [Book] 小児筋疾患ハンドブック (2009)
  • Author(s): 林由起子
  • Publisher: 診断と治療社
• [Book] 図説 分子病態学4版 (2008)
  • Author(s): 林由起子
  • Publisher: 中外医学社