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An approach to treatment of dilated cardiomyopathy caused by dystrophin abnormality

Research Project

Project/Area Number 19591209
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKumamoto University

Principal Investigator

KIMURA Shigemi  Kumamoto University, 大学院・生命科学研究部, 准教授 (60284767)

Project Period (FY) 2007 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2007: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords筋ジストロフィー / 拡張型心筋症 / アイソフォーム / ジストロフィン / 全国調査 / エクソン1 / 遺伝子異常 / 筋力低下なし / 高CK血症
Research Abstract

One of the causes of dilated cardiomyopathy is reported the abnormality of around exon 1 of the dystrophin, which is cause of Duchenne muscular dystrophy. We investigated analysis of the onset mechanisms and the frequency in this study. One of two cases showed that mutation in the splice donor site of exon 1 of dystrophin but another case did not. In spite of abnormality of dystrophin, the non-muscle weakness is explained that dystrophin isoform compensated in a skeletal muscle.
We analyzed dystrophin regulation with DNA array, but the known pathway did not have shown.

Report

(4 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • 2007 Annual Research Report
  • Research Products

    (31 results)

All 2010 2009 2008 2007 Other

All Journal Article (14 results) (of which Peer Reviewed: 14 results) Presentation (10 results) Book (6 results) Remarks (1 results)

  • [Journal Article] A case report of myoclonic epilepsy with ragged-red fibers without increased lactate levels2009

    • Author(s)
      Kimura S, Ozasa S, Nakamura K, Nomura K, Kosuge H
    • Journal Title

      Pediatr Neurol 41

      Pages: 46-48

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness2009

    • Author(s)
      Kimura S, Ito K, Ueno H, Ikezawa M, Takeshima Y, Yoshioka K, Ozasa S, Nakamura K, Nomura K, Matsukura M, Mitsui K, Matsuo M, Miike T
    • Journal Title

      Brain Dev 31

      Pages: 169-172

    • NAID

      10025578962

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical Outcomes after Long-term Treatment with Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease2009

    • Author(s)
      Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tato L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PN
    • Journal Title

      Genet Med 11

      Pages: 210-219

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness2009

    • Author(s)
      Kimura S, et al
    • Journal Title

      Brain.Dev 31

      Pages: 169-172

    • NAID

      10025578962

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical Outcomes after Long-term Treatment with α-glucosidase Alfa in Infants and Children with Advanced Pompe Disease2009

    • Author(s)
      M.Nicolino, et al(15番目)
    • Journal Title

      Genetics in Medicine 11

      Pages: 210-219

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case report of myoclonic epilepsy with ragged-red fibers without increased lactate levels2009

    • Author(s)
      Kimura S, et al
    • Journal Title

      Pediatr Neurol 41

      Pages: 46-48

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness.2009

    • Author(s)
      Kimura S, et al
    • Journal Title

      Brain. Dev 31

      Pages: 169-172

    • NAID

      10025578962

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Efficient Conversion of ES Cells into Myogenic Lineage Using the Gene-Inducible System2007

    • Author(s)
      Ozasa S, Kimura S, Ito K, Ueno H, Ikezawa M, Matsukura M, Yoshioka K, Araki K, Yamamura KI, Abe K, Niwa H, Miike T
    • Journal Title

      Biochmen. Bioph. Res. Co 357

      Pages: 957-963

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy2007

    • Author(s)
      Kimura S, Ikezawa M, Ozasa S, Ito K, Ueno H, Yoshioka K, Ijiri S, Nomura K, Nakamura K, Matuskura M, Miike T
    • Journal Title

      J Child Neurol 22

      Pages: 901-906

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy.2007

    • Author(s)
      Shigemi Kimura*,
    • Journal Title

      J Child Neurol 22

      Pages: 901-906

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Efficient Conversion of ES Cells into Myogenic Lineage Using the Gene-Inducible System.2007

    • Author(s)
      Shiro Ozasa,
    • Journal Title

      Biochmen Bioph Res Co 357

      Pages: 957-963

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical Outcomes after Long-term Treatment with Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease.

    • Author(s)
      M. Nicolino, et al(15番目)
    • Journal Title

      Genetics in Medicine (in press)

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case report of myoclonic epilepsy with ragged-red fibers without increased lactate levels.

    • Author(s)
      Kimura S, et al
    • Journal Title

      Pediatr Neurol (in press)

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness

    • Author(s)
      Shigemi Kimura*,
    • Journal Title

      Brain. Dev. (In press)

    • NAID

      10025578962

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Presentation] Checking exon-skipping events in candidates for clinical trials of morpholino2009

    • Author(s)
      Nakano S, et al
    • Organizer
      The 14th internatinao congress of WMS, Uni mail
    • Place of Presentation
      Geneve Switzerland
    • Year and Date
      2009-09-10
    • Related Report
      2009 Final Research Report
  • [Presentation] Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients2009

    • Author(s)
      S, Nakano, et al.
    • Organizer
      The 14^<th> international congress of world muscle society
    • Place of Presentation
      スイス(ジュネーブ)Uni Mail
    • Year and Date
      2009-09-10
    • Related Report
      2009 Annual Research Report
  • [Presentation] エクソンスキッピング誘導による治療の臨床応用に向けて、適正アンチセンスと適応患者のスクリーニング法の確立その22009

    • Author(s)
      木村重美, 他
    • Organizer
      第51回日本小児神経学会総会
    • Place of Presentation
      鳥取(米子コンベンションセンター)
    • Year and Date
      2009-05-28
    • Related Report
      2009 Final Research Report
  • [Presentation] デュシェシヌ筋ジストロフィーに対してエクソンスキップ誘導を用いた治療の適応患者のスクリーニング法の確立その22009

    • Author(s)
      木村重美, 他
    • Organizer
      第51回日本小児神経学会
    • Place of Presentation
      鳥取米子コンベンションセンター
    • Year and Date
      2009-05-28
    • Related Report
      2009 Annual Research Report
  • [Presentation] Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients2008

    • Author(s)
      Shigemi Kimura, 他
    • Organizer
      European Society of Gene and Cell Therapy
    • Place of Presentation
      ベルギー(ブルージュ)コンサートホール
    • Year and Date
      2008-11-16
    • Related Report
      2008 Annual Research Report
  • [Presentation] Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients2008

    • Author(s)
      Shigemi Kimura, et al
    • Organizer
      European Society of Gene and cell Therapy
    • Place of Presentation
      Concertgebouw Brugge, Belgium
    • Year and Date
      2008-10-11
    • Related Report
      2009 Final Research Report
  • [Presentation] デュシェンヌ筋ジストロフィーに対してエクソンスキップ誘導を用いた治療の適応患者のスクリーニング法の確立2008

    • Author(s)
      木村重美, 他
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京(ホテル日航東京)
    • Year and Date
      2008-05-29
    • Related Report
      2009 Final Research Report
  • [Presentation] デュシェンヌ筋ジストロフィーに対してエクソンスキップ誘導を用いた治療の適応患者のスクリーニング法の確立2008

    • Author(s)
      木村重美, 他
    • Organizer
      第50回日本小児神経学会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-29
    • Related Report
      2008 Annual Research Report
  • [Presentation] Efficient Conversion of ES Cells into Myogenic Lineage Using the Gene-Inducible System2007

    • Author(s)
      木村 重美
    • Organizer
      第10回アメリカ遺伝子治療学会
    • Place of Presentation
      シアトル
    • Year and Date
      2007-06-01
    • Related Report
      2007 Annual Research Report
  • [Presentation] Efficient Conversion of ES Cells into Myogenic Lineage Using the Gene-Inducible System2007

    • Author(s)
      Shigemi Kimura, et al
    • Organizer
      American Society of Gene Therapy
    • Place of Presentation
      Convention and trade center, Seattle USA
    • Year and Date
      2007-05-28
    • Related Report
      2009 Final Research Report
  • [Book] 先天性ミオパチー2010

    • Author(s)
      木村重美
    • Publisher
      診断と治療社(in press)
    • Related Report
      2009 Final Research Report
  • [Book] 小児の患者さんに対して、子どもの気持ちがわかる医師であれ2008

    • Author(s)
      木村重美
    • Publisher
      中外製薬
    • Related Report
      2009 Final Research Report
  • [Book] 筋無力症症候群小児科学第4版2008

    • Author(s)
      木村重美
    • Publisher
      医学書院
    • Related Report
      2009 Final Research Report
  • [Book] 小児科学(筋無力症候群)2008

    • Author(s)
      木村重美
    • Publisher
      医学書院
    • Related Report
      2008 Annual Research Report
  • [Book] ごめんね駿ちゃんがくれた宝物2007

    • Author(s)
      木村重美駿ちゃん
    • Publisher
      田迎保育園
    • Related Report
      2009 Final Research Report
  • [Book] 小児疾患知っておきたい臨床検値2007

    • Author(s)
      木村重美
    • Publisher
      日本薬学会
    • Related Report
      2009 Final Research Report
  • [Remarks]

    • URL

      http://www2.kuh.kumamoto-u.ac.jp/childdev/

    • Related Report
      2009 Final Research Report

URL: 

Published: 2007-04-01   Modified: 2016-04-21  

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