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Mutational analysis of SCN5A gene in sudden cardiac death and its application

Research Project

Project/Area Number 15K19277
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, 講師 (30433717)

Project Period (FY) 2015-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
KeywordsSCN5A / 心臓性突然死 / 心臓イオンチャネル遺伝子 / 心筋症 / 致死性不整脈 / QT延長症候群 / 急性心機能不全
Outline of Final Research Achievements

In most cases of sudden death, cause and manner of death can be established, with many attributable to cardiac abnormalities 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 gene, SCN5A were preformed in sudden cardiac death. One mutation(p.Phe532Cys) was detected in only acute heart failure and dilated cardiomyopathy cases. This mutation was analyzed by using Polyphen2. p.Phe532Cys had Polyphen2 score of 0.999 (Probably damaging). It would be desirable to survey other disease-causing genes to determine a more accurate prevalence of gene mutations in sudden cardiac death.

Report

(3 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • Research Products

    (2 results)

All 2016 2015

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (1 results)

  • [Journal Article] 心臓性突然死の遺伝子解析Ⅲ‐SCN5A遺伝子の変異解析‐2015

    • 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: 23 Pages: 177-180

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Presentation] 心筋症及び心肥大・拡張事例におけるラミンA/C遺伝子およびサイファー遺伝子の変異解析.2016

    • Author(s)
      前田一輔,村上千香子,入江 渉,佐々木千寿子,中村茂基,佐藤文子,栗原克由.
    • Organizer
      第66回日本法医学会学術九州地方集会
    • Place of Presentation
      久留米大(福岡県久留米市)
    • Year and Date
      2016-10-14
    • Related Report
      2016 Annual Research Report

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Published: 2015-04-16   Modified: 2018-03-22  

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