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To elucidate pathomechanisms of myopathies associated with nuclear envelopathy

Research Project

Project/Area Number 24390227
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypePartial Multi-year Fund
Section一般
Research Field Neurology
Research InstitutionTokyo Medical University (2013-2014)
National Center of Neurology and Psychiatry (2012)

Principal Investigator

HAYASHI Yukiko  東京医科大学, 医学部, 教授 (50238135)

Co-Investigator(Kenkyū-buntansha) OHISA Satoshi  独立行政法人国立精神・神経医療研究センター, 神経研究所・疾病研究第一部, 流動研究員 (90610840)
MATSUDA Chie  東京医科大学, 医学部, 講師 (50344099)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥18,330,000 (Direct Cost: ¥14,100,000、Indirect Cost: ¥4,230,000)
Fiscal Year 2014: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2013: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2012: ¥10,530,000 (Direct Cost: ¥8,100,000、Indirect Cost: ¥2,430,000)
Keywords核膜病 / 病態解析 / 核膜 / ラミン / リン酸化 / 筋ジストロフィー / ミオパチー / モデルマウス / 細胞・組織 / シグナル伝達 / 老化 / 遺伝子 / タンパク質
Outline of Final Research Achievements

Nucleus of the cell is surrounded by nuclear membrane and many nuclear membrane proteins are identified. Nuclear membrane is lined by nuclear lamina, and lamins are major components of the nuclear lamina. Nuclear envelopathy is a group of disorders caused by mutations in the genes encoding nuclear lamina or nuclear membrane proteins, and their clinical symptoms are quite variable.
In this study, we used several model mice with the gene mutations in LMNA and/or EMD, and examined their skeletal and cardiac muscles using histopathological, gene expression analyses and obtained some results to understand their pathomechanisms.
We produced a good animal model for muscular dystrophy related nuclear envelopathy. We examined several animal models and found that different gene expression patterns in emerin knockout, LMNA knock-in, and double mutant mice. We also reported that LMNA mutation can cause clinicopathological features mimicking to congenital fiber type disproportion.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • Research Products

    (26 results)

All 2015 2014 2013 2012

All Journal Article (11 results) (of which Peer Reviewed: 9 results,  Acknowledgement Compliant: 1 results,  Open Access: 1 results) Presentation (12 results) (of which Invited: 3 results) Book (3 results)

  • [Journal Article] Congenital fiber type disproportion myopathy caused by LMNA mutations.2014

    • Author(s)
      Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK
    • Journal Title

      J Neurol Sci

      Volume: 340 Issue: 1-2 Pages: 94-98

    • DOI

      10.1016/j.jns.2014.02.036

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by α1-adrenergic receptors.2014

    • Author(s)
      Ogata T, Naito D, Nakanishi N, Hayashi YK, Taniguchi T, Miyagawa K, Hamaoka T, Maruyama N, Matoba S, Ikeda K, Yamada H, Oh H, Ueyama T.
    • Journal Title

      Proc Natl Acad Sci U S A

      Volume: 111 Issue: 10 Pages: 3811-3816

    • DOI

      10.1073/pnas.1315359111

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 発症42年後にEmery-Dreifuss型筋ジストロフィーと診断され両室ペーシング機能付き植え込み型除細動器(cardiac resynchronization therapy defibrillator; CRT-D)挿入となった1例2014

    • Author(s)
      崎山快夫, 渡邉萌理, 大塚美恵子, 平原大志*, 百村伸一, 林由起子
    • Journal Title

      臨床神経

      Volume: 54 Issue: 6 Pages: 489-494

    • DOI

      10.5692/clinicalneurol.54.489

    • NAID

      130004505589

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 199th ENMC International workshop: FHL1 related Myopathies, June 7-9, 2013, Naarden, The Netherlands.2014

    • Author(s)
      Bertrand AT, Hayashi YK, et al.
    • Journal Title

      Neuromuscul Disord

      Volume: 24 Issue: 5 Pages: 453-462

    • DOI

      10.1016/j.nmd.2014.02.002

    • Related Report
      2013 Annual Research Report
  • [Journal Article] A nationwide survey on Marinesco-Sjogren syndrome in Japan.2014

    • Author(s)
      Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, and Yukiko K. Hayashi.
    • Journal Title

      Orphanet J Rare Diseases

      Volume: 9 Issue: 1 Pages: 58-58

    • DOI

      10.1186/1750-1172-9-58

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.2013

    • Author(s)
      Matsuura T, Kurosaki T, Omote Y, Minami N, Hayashi YK, Nishino I, Abe K.
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 8 Pages: 564-565

    • DOI

      10.1038/jhg.2013.33

    • NAID

      10031195288

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood.2013

    • Author(s)
      Murakami N, Hayashi YK, Oto Y, Shiraishi M, Itabashi H, Kudo K, Nishino I, Nonaka I, Nagai T
    • Journal Title

      Neuromuscul Disord

      Volume: 23 Issue: 5 Pages: 441-444

    • DOI

      10.1016/j.nmd.2013.02.005

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 筋ジストロフィー2013

    • Author(s)
      林 由起子
    • Journal Title

      検査と技術

      Volume: 41 Pages: 448-453

    • Related Report
      2013 Annual Research Report
  • [Journal Article] In VivoCharacterization of Mutant Myotilins.2012

    • Author(s)
      Keduka E, et al.
    • Journal Title

      Am J Pathol

      Volume: 180 Issue: 4 Pages: 1570-1580

    • DOI

      10.1016/j.ajpath.2011.12.040

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.2012

    • Author(s)
      Tsuburaya RS, et al.
    • Journal Title

      Neuromuscul Disord

      Volume: 22 Issue: 5 Pages: 389-393

    • DOI

      10.1016/j.nmd.2011.11.003

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Myopathy associated with antibodies to signal recognition particle : disease progression and neurological outcome2012

    • Author(s)
      Suzuki S, Hayashi YK, Kuwana M, Tsuburaya R, Suzuki N, Nishino I
    • Journal Title

      Arch Neurol

      Volume: 69 Issue: 6 Pages: 728-732

    • DOI

      10.1001/archneurol.2011.1728

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Presentation] 次世代シークエンサーを活用したネマリンミオパチーの遺伝子変異解析2014

    • Author(s)
      林 由起子,埜中征哉,宮武聡子,輿水絵里子,松本直通*,西野一三
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      浜松
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Annual Research Report
  • [Presentation] ネマリンミオパチーの臨床遺伝学的多様性2014

    • Author(s)
      林 由起子,後藤加奈子,宮武聡子,輿水江里子,松本直通,埜中征哉*,西野一三
    • Organizer
      第55回日本神経学会学術大会
    • Place of Presentation
      福岡
    • Year and Date
      2014-05-21 – 2014-05-24
    • Related Report
      2014 Annual Research Report
  • [Presentation] Immunohistochemistry for muscle diseases.2014

    • Author(s)
      Yukiko K. Hayashi
    • Organizer
      13th Asian and Oceaninan Muscular Center Annual Scientific Meeting
    • Place of Presentation
      Philippine
    • Year and Date
      2014-04-14 – 2014-04-17
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 13th Asian and Oceaninan Muscular Center Annual Scientific Meeting2014

    • Author(s)
      Yukiko K. Hayashi
    • Organizer
      13th Asian and Oceaninan Muscular Center Annual Scientific Meeting
    • Place of Presentation
      Phillipne
    • Year and Date
      2014-04-14 – 2014-04-17
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] FHL1 Myopathies in Japan.2013

    • Author(s)
      Hayashi Y, et al.
    • Organizer
      199th ENMC International Workshop
    • Place of Presentation
      The Netherlands
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Japanese family phenotypes2012

    • Author(s)
      Hayashi YK
    • Organizer
      NEMALINE MYOPATHY SATELLITE WORKSHOP
    • Place of Presentation
      パース、オーストラリアPerth Convention Exhibition Centre
    • Year and Date
      2012-10-14
    • Related Report
      2012 Annual Research Report
  • [Presentation] Fiber type disproportion caused by LMNA mutations.2012

    • Author(s)
      Kajino S, et al.
    • Organizer
      17th International Congress of the World Muscle Society
    • Place of Presentation
      パース、オーストラリアPerth Convention Exhibition Centre
    • Year and Date
      2012-10-12
    • Related Report
      2012 Annual Research Report
  • [Presentation] Affixin is involved in sarcolemmal repair.2012

    • Author(s)
      Matsuda C, et al.
    • Organizer
      17th International Congress of the World Muscle Society
    • Place of Presentation
      パース、オーストラリアPerth Convention Exhibition Centre
    • Year and Date
      2012-10-10
    • Related Report
      2012 Annual Research Report
  • [Presentation] 核の変化と筋疾患2012

    • Author(s)
      林由起子
    • Organizer
      第5回山陽 Neuro Muscular Forum
    • Place of Presentation
      岡山、日本 川崎医科大学
    • Year and Date
      2012-08-25
    • Related Report
      2012 Annual Research Report
  • [Presentation] 筋ジストロフィー研究の進歩2012

    • Author(s)
      林由起子
    • Organizer
      東京医科大学総合研究所主催シンポジウム(第12回医学総合研究所セミナー)
    • Place of Presentation
      東京、日本 東京医科大学病院
    • Year and Date
      2012-06-26
    • Related Report
      2012 Annual Research Report
  • [Presentation] Fiber type disproportion caused by LMNA mutations.2012

    • Author(s)
      Kajino S, et al.
    • Organizer
      The 11^<th> Annual Scientific Meeting of the Asian Oceanian Myology Center
    • Place of Presentation
      京都、日本 Shiran Kaikan
    • Year and Date
      2012-06-07
    • Related Report
      2012 Annual Research Report
  • [Presentation] 本邦におけるVCPミオパチーの特徴.2012

    • Author(s)
      林由起子, 他
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京、日本 東京国際フォーラム
    • Year and Date
      2012-05-23
    • Related Report
      2012 Annual Research Report
  • [Book] 新領域別症候群 骨格筋症候群 上2015

    • Author(s)
      林 由起子
    • Total Pages
      471
    • Publisher
      日本臨床社
    • Related Report
      2014 Annual Research Report
  • [Book] 図説 分子病態学2014

    • Author(s)
      林 由起子
    • Total Pages
      408
    • Publisher
      中外医学社
    • Related Report
      2014 Annual Research Report
  • [Book] 筋疾患診療ハンドブック2013

    • Author(s)
      林 由起子
    • Total Pages
      206
    • Publisher
      中外医学社
    • Related Report
      2013 Annual Research Report

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Published: 2012-04-24   Modified: 2019-07-29  

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