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Development of rapid diagnosis method for mitochondrial disease using peripheral blood.

Research Project

Project/Area Number 18K15720
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionUniversity of Miyazaki

Principal Investigator

Utoyama Maiko  宮崎大学, 医学部, 助教 (80783795)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2019: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
KeywordsOCR: 酸素消費速度 / ECAR:細胞外酸性化速度 / OCR:酸素消費速度 / ミトコンドリア病 / OCR:酸素消費速度 / ECAR:細胞外酸素化速度
Outline of Final Research Achievements

In this study, we conducted basic research on the diagnostic use of an extracellular flux analyzer allowing sensitive detection of impaired mitochondrial energy production with peripheral blood, for mitochondrial dysfunction. Seven healthy controls, five suspected cases of mitochondrial disease, and five confirmed cases of mitochondrial disease were compared using oxygen consumption rate (OCR)/extracellular acidification rate (ECAR). The OCR/ECAR values were significantly lower in the group diagnosed with mitochondrial disease. In addition, the analysis took about three hours from the time of peripheral blood collection. The extracellular flux analyzer proved to be a useful tool for simple and rapid identification of mitochondrial dysfunction prior to definitive diagnosis. Prompt therapeutic intervention in patients with reduced OCR/ECAR may contribute to improved prognosis.

Academic Significance and Societal Importance of the Research Achievements

ミトコンドリア病は遺伝子検査、生化学的検査による確定診断まで長期間を要することから急性期の治療方針決定には寄与できず、この点は患者予後を規定する極めて重大な問題である。本研究結果によりミトコンドリア機能障害をわずか末梢血1mlの採取3時間程度で同定することに成功した。急性期のOCR/ECARの低下した症例では迅速に治療介入することで症例の予後改善に寄与することが可能となる。また、同一患者検体の経時的なOCR測定に利用できるため治療効果判定に有用である。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (1 results)

All 2021

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

  • [Journal Article] A useful method to diagnose Pearson syndrome mimicking Diamond-Blackfan anemia.2021

    • Author(s)
      Nishimura T, Yamada A, Utoyama M, Saito Y, Moritake H
    • Journal Title

      Pediatrics International

      Volume: 63 Issue: 2 Pages: 223-225

    • DOI

      10.1111/ped.14385

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed

URL: 

Published: 2018-04-23   Modified: 2022-01-27  

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