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Mutational analysis of the mitochondrial DNA detected in sudden cardiac death caused by cardiomyopathy

Research Project

Project/Area Number 20590685
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionKitasato University

Principal Investigator

NAKAMURA Shigeki  Kitasato University, 医学部, 講師 (70130268)

Co-Investigator(Kenkyū-buntansha) MURAKAMI Chikako  北里大学, 医学部, 助教 (30433717)
FURUKAWA Masataka  北里大学, 医学部, 講師 (90051911)
KURIHARA Katsuyoshi  北里大学, 医学部, 教授 (90138123)
Research Collaborator IRIE Wataru  北里大学, 医学部, 特任助教 (80597352)
KOBAYASHI Masamune  北里大学, 大学院・医療系研究科, 博士課程法医学専攻
MAEDA Kazuho  北里大学, 大学院・医療系研究科, 博士課程法医学専攻
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2008: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords心筋症 / 拡張型心筋症 / 肥大型心筋症 / ミトコンドリアDNA / ハプログループ / 心臓性突然死 / 遺伝子診断 / 遺伝子解析
Research Abstract

Comprehensive screening of Mitochondrial DNA (mtDNA) was performed in consented autopsy cases diagnosed as cardiomyopathies (CMs), in order to evaluate the prevalence of gene mutations in sudden cardiac death caused by CMs. Our result suggested that missense mutations were detected in 42% of DCM cases and in 20% of HCM cases. It was indicated that genetic analysis of mtDNA was useful to decide diagnosis of CM for forensic autopsy cases.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (30 results)

All 2011 2010 2009 2008

All Journal Article (15 results) (of which Peer Reviewed: 15 results) Presentation (15 results)

  • [Journal Article] Mutational analysis of the mitochondrial DNA detected in sudden cardiac death caused by cardiomyopathy2011

    • Author(s)
      小林正宗、中村茂基(他8名、2番目)
    • Journal Title

      The Kitasato Medical Journal Vol.41,印刷中

    • NAID

      40019009578

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] 心筋症に基づく突然死症例におけるmtDNA遺伝子解析2011

    • Author(s)
      小林正宗、中村茂基(他8名、2番目)
    • Journal Title

      DNA多型 Vol.19,印刷中

    • NAID

      10029668982

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutational analysis of the mitochondrial DNA detected in sudden cardiac death caused by cardiomyopathy2011

    • Author(s)
      小林正宗、中村茂基
    • Journal Title

      The Kitasato Medical Journal

      Volume: 41(in press)

    • NAID

      40019009578

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial DNA coding regionの変異性の検討I2010

    • Author(s)
      小林正宗、中村茂基(他8名、2番目)
    • Journal Title

      DNA多型 Vol.18

      Pages: 250-254

    • NAID

      10029668397

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of the sarcomere protein gene mutation on cardiomyopathy-mutations in the cardiac troponin I gene-2010

    • Author(s)
      村上千香子、中村茂基(他8名、2番目)
    • Journal Title

      Legal Medicine Vol.12

      Pages: 280-283

    • NAID

      10029883333

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of the sarcomere protein gene mutation on cardiomyopathy-mutations in the cardiac troponin I gene2010

    • Author(s)
      村上千香子、中村茂基
    • Journal Title

      Legal Medicine

      Volume: 12 Pages: 280-283

    • NAID

      10029883333

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial DNA coding regionの変異性の検討 I2010

    • Author(s)
      小林正宗、中村茂基
    • Journal Title

      DNA多型

      Volume: 18 Pages: 250-254

    • NAID

      10029668397

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of three major sarcomeric genes (MYH7, TNNT2, MYBPC3) in cardiomyopathy2009

    • Author(s)
      Maeda K、Nakamura S, 他
    • Journal Title

      Forensic Science International : Genetics Supplement Series Vol.2

      Pages: 499-500

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial DNA analysis of human skeletal remains unearthed from Northern area of Kanagawa prefecture, Japan.2009

    • Author(s)
      小林正宗、中村茂基(他8名、2番目)
    • Journal Title

      Forensic Science International : Genetics Supplement Series Vol.2

      Pages: 263-264

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of three major sarcomeric genes(MYH7, TNNT2, MYBPC3)in cardiomyopathy2009

    • Author(s)
      前田一輔、中村茂基
    • Journal Title

      Forensic Science International : Genetics Supplement Series 2

      Pages: 499-500

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial DNA analysis of human skeletal remains unearthed from Northern area of Kanagawa prefecture, Japan2009

    • Author(s)
      小林正宗、中村茂基
    • Journal Title

      Forensic Science International : Genetics Supplement Series 2

      Pages: 263-264

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of mtDNA control region using mitoSEQrTM resequencing system and its forensic application.2008

    • Author(s)
      中村茂基、村上千香子(他7名、1番目)
    • Journal Title

      Forensic Science International : Genetics Supplement Series Vol.1

      Pages: 292-294

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] 心筋症の遺伝子解析VII-ミオシン結合蛋白C遺伝子の変異解析-2008

    • Author(s)
      村上千香子、中村茂基(他6名、2番目)
    • Journal Title

      DNA多型 Vol.16

      Pages: 207-209

    • NAID

      10025753714

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of mtDNA control region using mitoSEQr^<TM> resequencing system and its forensic application2008

    • Author(s)
      中村茂基
    • Journal Title

      Forensic Science International : Genetics Supplement Series 1

      Pages: 292-294

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 心筋症の遺伝子解析VII-ミオシン結合蛋白C遺伝子の変異解析-2008

    • Author(s)
      村上千香子, 中村茂基
    • Journal Title

      DNA多型 16

      Pages: 207-209

    • NAID

      10025753714

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Presentation] 心筋症に基づく突然死症例におけるmtDNA遺伝子解析2011

    • Author(s)
      小林正宗、中村茂基
    • Organizer
      日本DNA多型学会第19回学術集会
    • Place of Presentation
      三島市民文化会館(静岡県)
    • Year and Date
      2011-11-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] 心筋症に基づく突然死症例におけるmtDNA遺伝子解析2010

    • Author(s)
      中村茂基
    • Organizer
      日本DNA多型学会第19回学術集会
    • Place of Presentation
      三島市
    • Year and Date
      2010-11-18
    • Related Report
      2010 Final Research Report
  • [Presentation] 心筋症の遺伝子解析X-トロポニン構成遺伝子の変異解析-2010

    • Author(s)
      村上千香子
    • Organizer
      第94次日本法医学会学術全国集会
    • Place of Presentation
      東京
    • Year and Date
      2010-06-24
    • Related Report
      2010 Final Research Report
  • [Presentation] 心筋症の遺伝子解析X-トロポニン構成遺伝子の変異解析-2010

    • Author(s)
      村上千香子、中村茂基
    • Organizer
      第94次日本法医学会学術全国集会
    • Place of Presentation
      タワーホール船堀(東京都)
    • Year and Date
      2010-06-24
    • Related Report
      2010 Annual Research Report
  • [Presentation] Mitochondrial DNA coding regionの変異性の検討I2009

    • Author(s)
      中村茂基
    • Organizer
      日本DNA多型学会第18回学術集会
    • Place of Presentation
      久留米市
    • Year and Date
      2009-11-18
    • Related Report
      2010 Final Research Report
  • [Presentation] Mitochondrial DNA coding regionの変異性の検討I2009

    • Author(s)
      小林正宗、中村茂基
    • Organizer
      日本DNA多型学会第18回学術集会
    • Place of Presentation
      久留米
    • Year and Date
      2009-11-18
    • Related Report
      2009 Annual Research Report
  • [Presentation] 心筋症の遺伝子解析IX-心室型ミオシン調節軽鎖遺伝子の変異解析-2009

    • Author(s)
      中村茂基
    • Organizer
      第78回日本法医学会学術関東地方集会
    • Place of Presentation
      東京
    • Year and Date
      2009-10-31
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] Analysis of three major sarcomeric genes (MYH7, TNNT2, MYBPC3) in cardiomyopathy2009

    • Author(s)
      中村茂基
    • Organizer
      23rd World Congress International Society for Forensic Genetics
    • Place of Presentation
      ブエノスアイレス市
    • Year and Date
      2009-09-18
    • Related Report
      2010 Final Research Report
  • [Presentation] Analysis of three major sarcomeric genes(MYH7, TNNT2, MYBPC3)in cardiomyopathy2009

    • Author(s)
      前田一輔、中村茂基
    • Organizer
      23rd World Congress International Society for Forensic Genetics
    • Place of Presentation
      ブエノスアイレス
    • Year and Date
      2009-09-18
    • Related Report
      2009 Annual Research Report
  • [Presentation] Mitochondrial DNA analysis of human skeletal remains unearthed from Northern area of Kanagawa prefecture, Japan2009

    • Author(s)
      中村茂基
    • Organizer
      23rd World Congress International Society for Forensic Genetics
    • Place of Presentation
      ブエノスアイレス市
    • Year and Date
      2009-09-17
    • Related Report
      2010 Final Research Report
  • [Presentation] Mitochondrial DNA analysis of human skeletal remains unearthed from Northern area of Kanagawa prefecture, Japan2009

    • Author(s)
      小林正宗、中村茂基
    • Organizer
      23rd World Congress International Society for Forensic Genetics
    • Place of Presentation
      ブエノスアイレス
    • Year and Date
      2009-09-17
    • Related Report
      2009 Annual Research Report
  • [Presentation] 心筋症のミトコンドリアDNA解析I2009

    • Author(s)
      中村茂基
    • Organizer
      第93次日本法医学会学術全国集会
    • Place of Presentation
      大阪市
    • Year and Date
      2009-05-14
    • Related Report
      2010 Final Research Report
  • [Presentation] 心筋症のミトコンドリアDNA解析I2009

    • Author(s)
      小林正宗、中村茂基
    • Organizer
      第93次日本法医学会学術全国集会
    • Place of Presentation
      大阪
    • Year and Date
      2009-05-14
    • Related Report
      2009 Annual Research Report
  • [Presentation] 心筋症の遺伝子解析VII-ミオシン結合蛋白C遺伝子の変異解析-2008

    • Author(s)
      中村茂基
    • Organizer
      92次日本法医学会総会
    • Place of Presentation
      長崎市
    • Year and Date
      2008-04-25
    • Related Report
      2010 Final Research Report
  • [Presentation] 心筋症の遺伝子解析VII-ミオシン結合蛋白C遺伝子の変異解析-2008

    • Author(s)
      前田一輔, 中村茂基
    • Organizer
      第92次日本法医学会総会
    • Place of Presentation
      長崎市
    • Year and Date
      2008-04-25
    • Related Report
      2008 Annual Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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