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Arrhythmogenic right ventricular cardiomyopathy is a molecular model for the status thymicolymphaticus?

Research Project

Project/Area Number 22590643
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

NISHIO Hajime  兵庫医科大学, 医学部, 教授 (90253260)

Co-Investigator(Kenkyū-buntansha) TAKAHASHI Motonori  神戸大学, 大学院・医学研究科, 講師 (90509100)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords法医病理学 / 突然死 / 胸腺 / 不整脈 / 法医解剖
Research Abstract

Status thymicolymphaticus has been defined as a condition of constitutional anomalies: hypertrophy of lymphoid organs such as the thymus, spleen, and lymph nodes, and hypoplasia of cardiovascular system. The condition is sometimes terminated by sudden death. In this study, we examined whether the R420W of the RYR2, which was found in sudden unexplained death cases, may be associated with the phenotypic characteristics of the status thymicolymphaticus by generating the knock-in mice model carrying the mutation. The model animals showed significant increase in organ weights of the thymus and spleen compared to those from the wild types.The findings support the idea that R420W mutation of the RYR2 may be associated with the phenotypes of the status thymicolymphaticus.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (4 results)

All 2012 2011 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (3 results)

  • [Journal Article] Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution2011

    • Author(s)
      Sato T, Nishio H, Suzuki, K
    • Journal Title

      a case report

      Volume: 13(6) Pages: 298-300

    • URL

      http://dx.doi.org/10.1016/j.legalmed.2011.08.004

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Presentation] 法医解剖症例を用いた遺伝子解析の実際2012

    • Author(s)
      西尾元
    • Organizer
      第59回日本法医学会学術近畿地方集会
    • Place of Presentation
      京都
    • Year and Date
      2012-10-11
    • Related Report
      2012 Final Research Report
  • [Presentation] 鈴木廣一若年性突然死症例における不整脈源性右室心筋症原因遺伝子変異の検討2012

    • Author(s)
      佐藤貴子、西尾元、坪井健人、岩田美佐、田村明敬
    • Organizer
      第94次日本法医学会学術全国集会
    • Place of Presentation
      東京
    • Year and Date
      2012-06-25
    • Related Report
      2012 Final Research Report
  • [Presentation] 法医解剖症例を用いた遺伝子解析の実際

    • Author(s)
      西尾元
    • Organizer
      第59回日本法医学会学術近畿地方集会
    • Place of Presentation
      京都府立医科大学
    • Related Report
      2012 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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