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The search for a biomarker for multiple system atrophy

Research Project

Project/Area Number 15K09334
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionThe University of Tokyo

Principal Investigator

Mitsui Jun  東京大学, 医学部附属病院, 特任准教授 (70579862)

Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Keywords多系統萎縮症 / 神経変性疾患 / バイオマーカー / コエンザイムQ10 / 酸化ストレス / 電子伝達系 / iPS細胞 / コエンザイム!Q10
Outline of Final Research Achievements

We compared the levels of plasma CoQ10 in patients with MSA with those in age-, sex-, and COQ2 genotype-matched controls and found decreased levels of plasma CoQ10 in patients with MSA regardless of the COQ2 genotype.
We found functional deficiency of mitochondrial respiration and anti-oxidative system in induced pluripotent stem cell (iPSC)-derived neurons from an MSA patient with the compound heterozygous COQ2 mutations. We also found an increase in apoptosis of iPSC-derived neurons from MSA patients.
These findings support a hypothesis that supplementation with CoQ10 is beneficial for patients with MSA.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (9 results)

All 2017 2016 2015

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 2 results,  Acknowledgement Compliant: 1 results) Presentation (2 results) (of which Int'l Joint Research: 1 results) Book (2 results)

  • [Journal Article] Three-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy with compound heterozygous COQ2 mutations.2017

    • Author(s)
      Mitsui J, Koguchi K, Momose T, Takahashi M, Matsukawa T, Yasuda T, Tokushige S, Ishiura H, Goto J, Nakazaki S, Kondo T, Ito H, Yamamoto Y and Tsuji S.
    • Journal Title

      Cerebellum

      Volume: - Issue: 3 Pages: 1-9

    • DOI

      10.1007/s12311-017-0846-9

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Induced pluripotent stem cell-derived neuronal cells from patients with multiple system atrophy as a model for investigating the pathogenesis linked to coenzyme Q10 insufficiency2017

    • Author(s)
      Nakamoto F, Okamoto S, Mitsui J, Ishiura H, Tsuji S, Okano H
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 381, Suppl Pages: 889-890

    • DOI

      10.1016/j.jns.2017.08.2504

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.2016

    • Author(s)
      Mitsui J, Matsukawa T, Yasuda T, Ishiura H, Tsuji S.
    • Journal Title

      JAMA Neurol.

      Volume: 73 Issue: 8 Pages: 977-80

    • DOI

      10.1001/jamaneurol.2016.1325

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Plasma Coenzyme Q10 Levels and Multiple System Atrophy-Reply.2016

    • Author(s)
      Mitsui J, Tsuji S.
    • Journal Title

      JAMA Neurol.

      Volume: 73 Issue: 12 Pages: 1499-1500

    • DOI

      10.1001/jamaneurol.2016.4133

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Variants associated with Gaucher disease in multiple system atrophy2015

    • Author(s)
      Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
    • Journal Title

      Ann Clin Transl Neurol.

      Volume: 2 Issue: 4 Pages: 417

    • DOI

      10.1002/acn3.185

    • URL

      https://localhost/en/publications/c946bad2-a238-4d0e-a396-6d33b3922ab7

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 多系統萎縮症の遺伝学的検討2015

    • Author(s)
      三井 純,松川 敬志,佐々木 秀直,矢部一郎,松島 理明,Alexandra Dürr,Alexis Brice,高嶋 博,JAMSAC,NAMSA-SG,辻 省次
    • Organizer
      第56回神経学会学術大会
    • Place of Presentation
      朱鷺メッセ(新潟県・新潟市)
    • Year and Date
      2015-05-21
    • Related Report
      2015 Research-status Report
  • [Presentation] Variants associated with Gaucher disease in multiple system atrophy.2015

    • Author(s)
      Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, JAMSAC, NAMSA-SG, Tsuji S.
    • Organizer
      The 67th American Academy of Neurology Annual Meeting
    • Place of Presentation
      Washington DC (United States of America)
    • Year and Date
      2015-04-22
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Book] 最新精神・神経遺伝医学研究と遺伝カウンセリング2017

    • Author(s)
      三井 純
    • Total Pages
      308
    • Publisher
      メディカルドゥ
    • ISBN
      9784944157655
    • Related Report
      2017 Annual Research Report
  • [Book] 運動失調のみかた、考えかた ―小脳と脊髄小脳変性症―2017

    • Author(s)
      三井 純
    • Total Pages
      358
    • Publisher
      中外医学社
    • ISBN
      9784498228900
    • Related Report
      2017 Annual Research Report

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Published: 2015-04-16   Modified: 2019-03-29  

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