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Mutational analysis of cardiac ion channel detected in sudden cardiac death

Research Project

Project/Area Number 24790643
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Legal medicine
Research InstitutionKitasato University

Principal Investigator

MURAKAMI Chikako  北里大学, 医学部, 助教 (30433717)

Project Period (FY) 2012-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Fiscal Year 2013: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords心臓イオンチャネル遺伝子 / KCNQ1 / KCNH2 / 心臓性突然死 / HERG / KCNE1 / 心筋症
Research Abstract

In most cases of sudden death, cause and manner of death can be established, with many attributable to cardiac abnormalities evident at autopsy. A significant number of sudden cardiac deaths, however, particularly in young people, remains unexplained following a comprehensive medicolegal investigation, including autopsy and laboratory tests. In this study, comprehensive screening of cardiac ion channel genes, KCNQ1 and KCNH2 were preformed in sudden cardiac death. It was examined whether screening of these SNPs could provide for genetic based diagnosis of sudden cardiac death. These results suggested that 5SNPs in KCNQ1 and 4SNPs in KCNH2 were important to the genetic based diagnosis of sudden cardiac death.

Report

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

    (31 results)

All 2014 2013 2012 Other

All Journal Article (7 results) (of which Peer Reviewed: 7 results) Presentation (24 results)

  • [Journal Article] 心臓性突然死の遺伝子解析-KCNQ1遺伝子の変異解析-2014

    • Author(s)
      村上千香子、前田一輔、入江渉、大石桃子、佐々木千寿子、中丸尚美、中村茂基、栗原克由
    • Journal Title

      日本DNA多型

      Volume: 22巻 Pages: 28-30

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of gene mutations encoding sarcomeric proteins in sudden death cases caused by cardiomyopathy2014

    • Author(s)
      Murakami C, Nakamaru N, Maeda K, Irie W, Oishi M, Sasaki C, Nakamaru N, Kurihara K. , Kitasato
    • Journal Title

      Med J

      Volume: 44 Pages: 47-55

    • NAID

      40020030182

    • URL

      http://mlib.kitasato-u.ac.jp/homepage/ktms/kaishi/pdf/KMJ44-1/KMJ44-1p047-055.pdf

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of gene mutations encoding sarcomeric proteins in sudden death cases caused by cardiomyopathy2014

    • Author(s)
      Chikako Murakami, Shigeki Nakamura, Kazuho Maeda, Wataru Irie, Momoko Oishi, Chizuko Sasaki, Naomi Nakamaru, Katsuyoshi Kurihara.
    • Journal Title

      Kitasato Med J

      Volume: 44 Pages: 47-55

    • NAID

      40020030182

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 心筋症の遺伝子解析XIII-筋LIM蛋白遺伝子の変異解析-2013

    • Author(s)
      村上千香子、前田一輔、入江渉、渡邉利真、大石桃子、佐々木千寿子、中丸尚美、古川理孝、中村茂基、栗原克由
    • Journal Title

      日本DNA多型

      Volume: 21巻 Pages: 261-4

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutational analysis of TTN, TCAP and TPM1 in cardiomyopathy2013

    • Author(s)
      Maeda K, Murakami C, Irie W, Oishi M, Sasaki C, Nakamaru N, Nakamura S, Kurihara K
    • Journal Title

      Forensic Sci International : Genetics Supplement Series

      Volume: Vol.4 Issue: 1 Pages: 166-167

    • DOI

      10.1016/j.fsigss.2013.10.086

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genetic analysis of g.7260-7291 region of ANKRD1 in Japanese population2013

    • Author(s)
      Nakamura S, Murakami C, Maeda K, Irie W, Sasaki C, Watanabe T, Oishi M, Kurihara K
    • Journal Title

      Forensic Sci International : Genetics Supplement Series

      Volume: Vol.4 Issue: 1 Pages: 358-359

    • DOI

      10.1016/j.fsigss.2013.10.182

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] 心筋症の遺伝子解析XIII-筋LIM蛋白遺伝子の変異解析-2013

    • Author(s)
      村上千香子, 前田一輔, 入江渉, 渡邉利真, 大石桃子, 佐々木千寿子, 中丸尚美, 古川理孝, 中村茂基, 栗原克由
    • Journal Title

      日本DNA多型

      Volume: 21 Pages: 261-264

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Presentation] 心筋症症例におけるタイチン遺伝子変異解析2014

    • Author(s)
      前田一輔、村上千香子、入江渉、佐々木千寿子、中丸尚美、大石桃子、中村茂基、栗原克由
    • Organizer
      第98次日本法医学会学術全国集会
    • Place of Presentation
      福岡
    • Year and Date
      2014-06-19
    • Related Report
      2013 Final Research Report
  • [Presentation] Genetic analysis of mtDNA mutation found in sudden death cases with cardiac hypertrophy2014

    • Author(s)
      Maeda K, Murakami C, Irie W, Sasaki C, Nakamaru N, Oishi M, Nakamura S, Kurihara K
    • Organizer
      The 9^<th> International Symposium on Advances in Legal Medicine
    • Place of Presentation
      福岡
    • Year and Date
      2014-06-18
    • Related Report
      2013 Final Research Report
  • [Presentation] Analysis of KCNH2 in cardiac sudden death2014

    • Author(s)
      Murakami C, Maeda K, Irie W, Oishi M, Sasaki C, Nakamaru N, Nakamaru N, Kurihara K
    • Organizer
      The 9^<th> International Symposium on Advances in Legal Medicine
    • Place of Presentation
      福岡
    • Year and Date
      2014-06-17
    • Related Report
      2013 Final Research Report
  • [Presentation] 心臓性突然死の遺伝子解析-KCNQ1遺伝子の変異解析-2013

    • Author(s)
      村上千香子、前田一輔、入江渉、大石桃子、佐々木千寿子、中丸尚美、中村茂基、栗原克由
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      宮城
    • Year and Date
      2013-11-22
    • Related Report
      2013 Final Research Report
  • [Presentation] Genetic analysis of g.7260-7291 region of ANKRD1 in Japanese population2013

    • Author(s)
      Nakamura S, Murakami C, Maeda K, Irie W, Sasaki C, Watanabe T, Ohishi M, Kurihara K
    • Organizer
      25^<th> Congress of the International Society for Forensic Genetics
    • Place of Presentation
      Australia.
    • Year and Date
      2013-09-04
    • Related Report
      2013 Final Research Report
  • [Presentation] Mutational analysis of TTN, TCAP and TPM1 in cardiomyopathy2013

    • Author(s)
      Maeda K, Murakami C, Irie W, Oishi M, Sasaki C, Nakamaru N, Nakamura S, Kurihara K
    • Organizer
      25^<th> Congress of the International Society for Forensic Genetics
    • Place of Presentation
      Australia.
    • Year and Date
      2013-09-04
    • Related Report
      2013 Final Research Report
  • [Presentation] 心筋症の遺伝子解析XIV -テレトニンおよびタイチン遺伝子の変異解析2013

    • Author(s)
      前田一輔、村上千香子、入江渉、大石桃子、佐々木千寿子、中丸尚美、中村茂基、古川理孝、栗原克由
    • Organizer
      第97次日本法医学会学術全国集会
    • Place of Presentation
      北海道
    • Year and Date
      2013-06-27
    • Related Report
      2013 Final Research Report
  • [Presentation] 心筋症の遺伝子解析XV-症例から見る遺伝子変異-2013

    • Author(s)
      村上千香子、前田一輔、入江渉、大石桃子、中丸尚美、佐々木千寿子、中村茂基、古川理孝、栗原克由
    • Organizer
      第97次日本法医学会学術全国集会
    • Place of Presentation
      北海道
    • Year and Date
      2013-06-27
    • Related Report
      2013 Final Research Report
  • [Presentation] 心筋症の遺伝子解析XIII−筋LIM蛋白遺伝子の変異解析−2012

    • Author(s)
      村上千香子、前田一輔、入江渉、渡邉利真、大石桃子、佐々木千寿子、中丸尚美、古川理孝、中村茂基、栗原克由
    • Organizer
      日本DNA多型学会第21回学術集会
    • Place of Presentation
      京都
    • Year and Date
      2012-11-08
    • Related Report
      2013 Final Research Report
  • [Presentation] 心筋症の遺伝子解析XII−心アンキリン反復蛋白遺伝子の変異解析−2012

    • Author(s)
      渡邉利真、村上千香子、前田一輔、入江渉、大石桃子、佐々木千寿子、中丸尚美、中村茂基、古川理孝、栗原克由
    • Organizer
      第81回日本法医学会学術関東地方集会
    • Place of Presentation
      群馬
    • Year and Date
      2012-10-20
    • Related Report
      2013 Final Research Report
  • [Presentation] 心筋症の遺伝子解析XI−心室型ミオシン調節軽鎖遺伝子の変異解析2012

    • Author(s)
      村上千香子、中村茂基、前田一輔、入江渉、渡邉利真、中丸尚美、佐々木千寿子、古川理孝
    • Organizer
      第96次日本法医学会学術全国集会
    • Place of Presentation
      浜松
    • Year and Date
      2012-06-08
    • Related Report
      2013 Final Research Report
  • [Presentation] 心筋症の遺伝子解析XIII -筋LIM蛋白遺伝子の変異解析-2012

    • Author(s)
      村上千香子,前田一輔,入江渉,渡邉利真,大石桃子,佐々木千寿子,中丸尚美,古川理孝,中村茂基,栗原克由
    • Organizer
      日本DNA多型学会第21回学術集会
    • Place of Presentation
      京都
    • Related Report
      2012 Research-status Report
  • [Presentation] 心筋症の遺伝子解析XI-心室型ミオシン調節軽鎖遺伝子の変異解析2012

    • Author(s)
      村上千香子,中村茂基,前田一輔,入江渉,渡邉利真,中丸尚美,佐々木千寿子,古川理孝
    • Organizer
      第96次日本法医学会学術全国集会
    • Place of Presentation
      浜松
    • Related Report
      2012 Research-status Report
  • [Presentation] 心筋症の遺伝子解析XIV -テレトニンおよびタイチン遺伝子の変異解析-.

    • Author(s)
      前田一輔,村上千香子,入江渉,大石桃子,佐々木千寿子,中丸尚美,中村茂基,古川理孝,栗原克由
    • Organizer
      第97次日本法医学会学術全国集会
    • Place of Presentation
      北海道
    • Related Report
      2013 Annual Research Report
  • [Presentation] 心筋症の遺伝子解析XV-症例から見る遺伝子変異-

    • Author(s)
      村上千香子, 前田一輔, 入江渉, 大石桃子, 中丸尚美, 佐々木千寿子, 中村茂基, 古川理孝,栗原克由
    • Organizer
      第97次日本法医学会学術全国集会
    • Place of Presentation
      北海道
    • Related Report
      2013 Annual Research Report
  • [Presentation] Mutational analysis of TTN, TCAP and TPM1 in cardiomyopathy

    • Author(s)
      Kazuho Maeda, Chikako Murakami, Wataru Irie, Momoko Oishi, Chizuko Sasaki, Naomi Nakamaru, Shigeki Nakamura, Katsuyoshi Kurihara
    • Organizer
      25th Congress of the International Society for Forensic Genetics
    • Place of Presentation
      Australia
    • Related Report
      2013 Annual Research Report
  • [Presentation] 日本人集団における心アンキリン反復蛋白遺伝子g.7260_7291領域の遺伝子多型解析

    • Author(s)
      前田一輔、村上千香子、入江渉、大石桃子、佐々木千寿子、中丸尚美、中村茂基、栗原克由.
    • Organizer
      第82回日本法医学会学術関東地方集会
    • Place of Presentation
      神奈川
    • Related Report
      2013 Annual Research Report
  • [Presentation] ANKRD1のg.7260_7291領域における個人識別への応用

    • Author(s)
      前田一輔、 村上千香子、入江渉、大石桃子、佐々木千寿子、中丸尚美、中村茂基、栗原克由
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      宮城
    • Related Report
      2013 Annual Research Report
  • [Presentation] 心臓性突然死の遺伝子解析-KCNQ1遺伝子の変異解析-

    • Author(s)
      村上千香子, 前田一輔, 入江渉, 大石桃子, 佐々木千寿子, 中丸尚美, 中村茂基, 栗原克由.
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      宮城
    • Related Report
      2013 Annual Research Report
  • [Presentation] Genetic analysis of g.7260-7291 region of ANKRD1 in Japanese population.

    • Author(s)
      Nakamura S, Murakami C, Maeda K, Irie W, Sasaki C, Watanabe T, Ohishi M, Kurihara K.
    • Organizer
      25th Congress of the International Society for Forensic Genetics
    • Place of Presentation
      Australia
    • Related Report
      2013 Annual Research Report
  • [Presentation] Analysis of KCNH2 in cardiac sudden death

    • Author(s)
      Chikako Murakami, Kazuho Maeda, Wataru Irie, Momoko Oishi, Chizuko Sasaki, Naomi Nakamaru, Shigeki Nakamura, Katsuyoshi Kurihara.
    • Organizer
      the 9th International Symposium on Advances in Legal Medicine
    • Place of Presentation
      福岡
    • Related Report
      2013 Annual Research Report
  • [Presentation] Genetic analysis of mtDNA mutation found in sudden death cases with cardiac hypertrophy

    • Author(s)
      Kazuho Maeda, Chikako Murakami, Wataru Irie, Chizuko Sasaki, Naomi Nakamaru, Momoko Oishi, Shigeki Nakamura, Katsuyoshi Kurihara
    • Organizer
      the 9th International Symposium on Advances in Legal Medicine
    • Place of Presentation
      福岡
    • Related Report
      2013 Annual Research Report
  • [Presentation] 心筋症症例におけるタイチン遺伝子変異解析

    • Author(s)
      前田一輔、 村上千香子、入江渉、佐々木千寿子、中丸尚美、大石桃子、中村茂基、 栗原克由
    • Organizer
      第98次日本法医学会学術全国集会
    • Place of Presentation
      福岡
    • Related Report
      2013 Annual Research Report
  • [Presentation] 心筋症の遺伝子解析XII -心アンキリン反復蛋白遺伝子の変異解析-

    • Author(s)
      渡邉利真,村上千香子,前田一輔,入江渉,大石桃子,佐々木千寿子,中丸尚美,中村茂基,古川理孝,栗原克由
    • Organizer
      第81回日本法医学会学術関東地方集会
    • Place of Presentation
      群馬
    • Related Report
      2012 Research-status Report

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

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