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Development and its application of the comprehensive analysis system to hypertriglyceridemia: mainly on nongenetic factors

Research Project

Project/Area Number 24500883
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Applied health science
Research InstitutionNational Cardiovascular Center Research Institute

Principal Investigator

TAKAGI Atsuko  独立行政法人国立循環器病研究センター, 研究所, 室長 (90179416)

Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords高トリグリセリド血症 / リポ蛋白リパーゼ / 動脈硬化 / 心疾患 / 自己免疫疾患 / 全身性エリテマトーデス / 阻害因子 / 自己抗体 / ヘテロ接合体 / 高トリグリセリドTG血症
Outline of Final Research Achievements

Hypertriglyceridemia is one of the risk factors for coronary heart disease, and it is caused by an abnormality of lipoprotein lipase (LPL) that is mainly associated with catabolism of triglyceride in the circulation. Causes of LPL abnormality were examined on the point of LPL gene, other genes and nongenetic factors associated with LPL function.
A hypertriglyceridemic subject-1 with low LPL mass exhibited one base deletion on exon 5 of LPL gene, leading to abnormal LPL. Two-hypertriglyceridemic subject-2 and 3, whose LPL genes were normal, were examined for GPIHBP1 gene associated with LPL function, and both of them showed a nonsynonymous mutation of T to G on exon 1, respectively. A hypertriglyceridemia subject-4 with low LPL mass due to autoimmune disease was normal in LPL gene, but her hypertriglyceridemia was caused by an autoantibody of IgA type inhibiting LPL activity. In this study, we developed a simple system for the detection of autoantibodies inhibiting LPL activity.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (9 results)

All 2015 2014 2013 2012

All Journal Article (2 results) Presentation (6 results) Book (1 results)

  • [Journal Article] II. 脂質代謝、動脈硬化における機能と臨床的意義 1. リポ蛋白リパーゼ2013

    • Author(s)
      高木敦子、池田康行
    • Journal Title

      The Lipid

      Volume: 24 Pages: 334-344

    • Related Report
      2013 Research-status Report
  • [Journal Article] 高トリグリセライド血症の遺伝子診断―LPL遺伝子変異診断を中心にー2013

    • Author(s)
      高木敦子、池田康行
    • Journal Title

      日本臨床

      Volume: 71 Pages: 1569-1576

    • Related Report
      2013 Research-status Report
  • [Presentation] Development of human adipose triglyceride lipase (ATGL) specific measurement system: production of rabbit anti-human ATGL antibody neutralizing ATGL activity2015

    • Author(s)
      Atsuko Takagi, Yasuyuki Ikeda, Kunihisa Kobayashi, Ken-ichi Hirano
    • Organizer
      The 3st International Symposium on Triglyceride Deposit Cardiomyovasculopathy and Neutral Lipid Storage Disease
    • Place of Presentation
      TKP Garden City Shinagawa (Tokyo)
    • Year and Date
      2015-03-14
    • Related Report
      2014 Annual Research Report
  • [Presentation] 高中性脂肪血症により急性膵炎を発症したリポプロテインリパーゼ機能低下症の1例2014

    • Author(s)
      杉山沙織、裵 成寛、篠崎聖兒、高木敦子、池田康行、具嶋敏文、 高橋和弘
    • Organizer
      消化器病学会・九州支部例会
    • Place of Presentation
      オアシスタワーホテル・ソレイユ(大分)
    • Year and Date
      2014-12-05 – 2014-12-06
    • Related Report
      2014 Annual Research Report
  • [Presentation] 日本人でのリポ蛋白リパーゼ(LPL)遺伝子変異カタログの構築とその利用2013

    • Author(s)
      高木敦子、池田康行
    • Organizer
      第17回 日本心血管内分泌代謝学会
    • Place of Presentation
      大阪・ライフサイエンスセンター
    • Related Report
      2013 Research-status Report
  • [Presentation] 日本人でのリポ蛋白リパーゼ(LPL)遺伝子変異カタログ:種類・特徴・変異検出への応用2013

    • Author(s)
      高木敦子、池田康行
    • Organizer
      第45回 日本動脈硬化学会大会
    • Place of Presentation
      東京・京王プラザホテル
    • Related Report
      2013 Research-status Report
  • [Presentation] リポ蛋白リパーゼ(LPL)遺伝子エキソン5上の新規変異S193R (C834G)と 既知変異I194T (T836C)の高トリグリセリド血症者からの同定2012

    • Author(s)
      高木敦子、池田康行、鈴木重雄
    • Organizer
      第44回 日本動脈硬化学会大会
    • Place of Presentation
      福岡・ヒルトン福岡シーホーク
    • Related Report
      2012 Research-status Report
  • [Presentation] 高トリグリセリド(TG)血症病因診断のためのリポ蛋白リパーゼ(LPL)、肝性トリグリセリドリパーゼ(HTGL)活性の簡便な測定系の開発2012

    • Author(s)
      高木敦子、池田康行
    • Organizer
      第85回 日本生化学会大会
    • Place of Presentation
      福岡・福岡国際会議場
    • Related Report
      2012 Research-status Report
  • [Book] 先天代謝異常ハンドブック2013

    • Author(s)
      高木敦子、池田康行、鈴木 朗、平野賢一
    • Publisher
      山中書店
    • Related Report
      2013 Research-status Report

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

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