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Epigenomics and muscular dystrophy

Research Project

Project/Area Number 24659437
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionTokyo Medical University (2013)
独立行政法人国立精神・神経医療研究センター (2012)

Principal Investigator

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

Co-Investigator(Kenkyū-buntansha) KUBOTA Takeo  山梨大学, 医学工学総合研究部, 教授 (70293511)
Co-Investigator(Renkei-kenkyūsha) NOGUCHI Satoru  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, 室長 (00370982)
NISHINO Ichizo  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, 部長 (00332388)
Research Collaborator SATO Hidenori  山形大学, 第3内科, 准教授
SATO Takatoshi  東京女子医科大学, 小児科, 医員
ISHIYAMA Teruhiko  国立精神・神経医療研究センター病院, 医長
AMANAKA Kohei  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, 研究生
GOTO Kanako  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, 研究員
Project Period (FY) 2012-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords遺伝学 / エピゲノム / 細胞・組織 / メチル化 / 筋疾患 / ゲノム / 発現抑制 / 脳神経疾患 / 発現制御
Research Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is caused by truncation of 3.3-kb D4Z4 repeats on the chromosome 4q35, which is thought to have close association with epigenomic changes. In this study, we performed genome-wide methylation study by using high dense methylation array, but no specific changes were found between the patients and their healthy parents. Next, we performed specific methylation study of the disease associated genomic region of FSHD. We found negative correlation between clinical severity and DNA methylation. This affected chromosome-specific analysis is useful to elucidate pathogenesis of FSHD.

Report

(3 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • Research Products

    (34 results)

All 2014 2013 2012 Other

All Journal Article (13 results) (of which Peer Reviewed: 8 results,  Acknowledgement Compliant: 1 results,  Open Access: 1 results) Presentation (15 results) (of which Invited: 7 results) Book (6 results)

  • [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] 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
      2013 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
      2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [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巻 Pages: 448-453

    • URL

      https://www.igaku-shoin.co.jp/journalDetail.do?journal=35321

    • Related Report
      2013 Final Research Report
  • [Journal Article] Unusual presentation: unilateral arm and contralateral leg amyotrophy in facioscapulohumeral muscular dystrophy (FSHD)2013

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S.
    • Journal Title

      Neurology

      Volume: 79 Issue: 5

    • DOI

      10.1212/wnl.0b013e3182617125

    • Related Report
      2013 Final Research Report 2012 Research-status 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] Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.2013

    • Author(s)
      Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, JongYJ.
    • Journal Title

      Neuromuscul Disord

      Volume: 23 Issue: 8 Pages: 675-681

    • DOI

      10.1016/j.nmd.2013.05.010

    • 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] Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1 : An imaging study using computed tomography2012

    • Author(s)
      Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK, Nishino I Hirata K.
    • Journal Title

      J Neurol Sci

      Volume: 318巻 Issue: 1-2 Pages: 163-167

    • DOI

      10.1016/j.jns.2012.04.007

    • Related Report
      2013 Final Research Report
  • [Journal Article] 顔面肩甲上腕型筋ジストロフィーの最近の進歩2012

    • Author(s)
      林由起子,後藤加奈子,西野一三
    • Journal Title

      臨床神経学

      Volume: 52巻 Pages: 1154-1157

    • URL

      https://www.jstage.jst.go.jp/article/clinicalneurol/52/11/52_1154/_article/-char/ja/

    • Related Report
      2013 Final Research Report
  • [Journal Article] Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics.2012

    • Author(s)
      Kubota T, et al.
    • Journal Title

      Clin Epigenetics

      Volume: 4 Issue: 1 Pages: 1-1

    • DOI

      10.1186/1868-7083-4-1

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] The C2A domain in dysferlin is important for association with MG53 (TRIM72).2012

    • Author(s)
      Chie Matsuda
    • Journal Title

      PLoS Curr.

      Volume: 4

    • DOI

      10.1371/5035add8caff4

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] 顔面肩甲上腕型筋ジストロフィー2012

    • Author(s)
      林 由起子, 他
    • Journal Title

      臨床神経

      Volume: 52 Pages: 1154-1157

    • NAID

      130004505239

    • Related Report
      2012 Research-status Report
  • [Presentation] FHL1 Myopathies in Japan2013

    • Author(s)
      Hayashi YK, et al.
    • Organizer
      199th ENMC International Workshop, Naarden
    • Place of Presentation
      The Netherlands (NH Naarden Hotel)オランダ
    • Related Report
      2013 Final Research Report
  • [Presentation] Myofibrillar myopathy.2013

    • Author(s)
      林 由起子
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 骨パジェット病および前頭側頭型痴呆をともなう封入体ミオパチー2013

    • Author(s)
      林 由起子
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] ネマリンミオパチーの臨床遺伝学的解析2013

    • Author(s)
      林由起子,本村和嗣,後藤加奈子,野口 悟,宮武聡子,輿水江里子,松本直通,西野一三
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
  • [Presentation] FHL1 Myopathies in Japan2013

    • Author(s)
      Hayashi YK, Shalaby S, Nishino I
    • Organizer
      199th ENMC International Workshop
    • Place of Presentation
      オランダ
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Mutation screening of a large cohort of nemaline myopathy2013

    • Author(s)
      Hayashi YK, Goto K, Noguchi S, Matsumoto N, Laing N, North K, Clark N, Nonaka I, Nishino I
    • Organizer
      International Congress of the World Muscle Society
    • Place of Presentation
      USA
    • Related Report
      2013 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
    • Year and Date
      2012-06-26
    • Related Report
      2013 Final Research Report
  • [Presentation] A neuroimaging study of asymmetric skeletal muscle involvement in facioscapulohumeral muscular dystrophy2012

    • Author(s)
      Sugie K, Hayashi YK et al.
    • Organizer
      The 11th Annual Meeting of the Asian and Oceanian Myology Center
    • Place of Presentation
      京都
    • Related Report
      2013 Final Research Report
  • [Presentation] 顔面肩甲上腕型筋ジストロフィー2012

    • Author(s)
      林由起子
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] Translational research of muscular dystrophy in Japan2012

    • Author(s)
      林由起子
    • Organizer
      釜山大學校病院-釜山大學校醫學專門大學院統合學術大會
    • Place of Presentation
      Korea
    • Related Report
      2013 Final Research Report
  • [Presentation] 顔面肩甲上腕型筋ジストロフィー2012

    • Author(s)
      林 由起子
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京 国際フォーラム
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] A neuroimaging study of asymmetric skeletal muscle involvement in facioscapulohumeral muscular dystrophy.2012

    • Author(s)
      Sugie K
    • Organizer
      The 11th Annual Meeting of the Asian and Oceanian Myology Center
    • Place of Presentation
      KYOTO Shiran Kaikan
    • Related Report
      2012 Research-status Report
  • [Presentation] 筋ジストロフィー研究の進歩

    • Author(s)
      林 由起子
    • Organizer
      第12回医学総合研究所セミナー
    • Place of Presentation
      東京 東京医科大学臨床講堂
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] 核の変化と筋疾患

    • Author(s)
      林 由起子
    • Organizer
      第5回山陽 Neuro Muscular Forum
    • Place of Presentation
      岡山 川崎医科大学
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] 基本講座 いまさら聞けない遺伝医学「エピジェネティクス、基本を教えて」

    • Author(s)
      久保田健夫
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京 京王プラザホテル
    • Related Report
      2012 Research-status Report
    • Invited
  • [Book] 筋ジストロフィー.図説分子病態学改訂5版2014

    • Author(s)
      林由起子
    • Publisher
      中外医学社
    • Related Report
      2013 Final Research Report
  • [Book] Section 4: Chromatin and Epigenetic Influences on DNA Replication, Chapter : Current Understanding of Epigenomics and Epigenetics in Neurodevelopmental Disorders. In " Epigenomics and Epigenetics"2014

    • Author(s)
      Kubota T, et al.
    • Publisher
      Intech (Open Access Publisher)
    • Related Report
      2013 Final 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
      2013 Annual Research Report
  • [Book] Epigenomics and Epigenetics2014

    • Author(s)
      Kubota T, Miyake K, Hirasawa T
    • Publisher
      ISBN
    • Related Report
      2013 Annual Research Report
  • [Book] Chapter : Epigenetic Modulation of Human Neurobiological Disorders. In"Epigenetics in human disease"2012

    • Author(s)
      Kubota T, et al.
    • Publisher
      Elisevier
    • Related Report
      2013 Final Research Report
  • [Book] Section 4: Chromatin and Epigenetic Influences on DNA Replication, Chapter 13: The Mechanism of Epigenetic Modifications during DNA Replication. In "The Mechanisms of DNA Replictaion"2012

    • Author(s)
      Kubota T, Miyake K, Hirasawa T.
    • Publisher
      Intech (Open Access Publisher)
    • Related Report
      2013 Final Research Report

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Published: 2013-05-31   Modified: 2019-07-29  

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