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Chorea-acanthocytosis and mitophagy: clarifying the molecular mechanisms of the disease and developing methods to prevent neurodegeneration

Research Project

Project/Area Number 17H04250
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Psychiatric science
Research InstitutionKagoshima University

Principal Investigator

Sano Akira  鹿児島大学, 医歯学域医学系, 教授 (30178800)

Co-Investigator(Kenkyū-buntansha) 中村 雅之  鹿児島大学, 医歯学域医学系, 准教授 (90332832)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥15,990,000 (Direct Cost: ¥12,300,000、Indirect Cost: ¥3,690,000)
Fiscal Year 2019: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2018: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Fiscal Year 2017: ¥7,540,000 (Direct Cost: ¥5,800,000、Indirect Cost: ¥1,740,000)
Keywords有棘赤血球舞踏病 / マイトファジー / chorein / VPS13A / 創始者効果 / 神経変性 / VPS13A遺伝子 / Chorein
Outline of Final Research Achievements

Selective autophagy for impaired mitochondria is known as mitophagy, by which mitochondrial quality is preserved. Chorein, a protein responsible for chorea-acanthocytosis, was suggested to be involved in mitophagy-mediated mitochondrial quality control mechanisms. It was suggested that the neurodegeneration in chorea-acanthocytosis may be due in part to a disruption of mitophagy.
We found that patients with chorea-acanthocytosis exhibited a variety of psychiatric symptoms, including cognitive decline. Approximately 55% of the mutations in Japanese patients with ChAc carried two major mutations. These mutations were localized in Tokyo and west side of Japan and the partial founder effects were suggested.

Academic Significance and Societal Importance of the Research Achievements

有棘赤血球舞踏病は、国際的には日本人に多いとされる稀な遺伝性神経変性疾患である。今回の研究で、有棘赤血球舞踏病が認知機能障害を含む多彩な精神症状を呈することが明らかとなった。また、有棘赤血球舞踏病の病因にミトコンドリアの品質維持機構の破綻が関与している可能性が示唆された。有棘赤血球舞踏病が多彩な精神症状を呈することからも、choreinとマイトファジーが他の精神神経疾患と関連する可能性と、その破綻した機構の回復が多くの精神神経疾患の分子的な治療の一端となる可能性がある。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Annual Research Report
  • 2017 Annual Research Report

Research Products

(11 results)

All 2020 2019 2018

All Journal Article (8 results) (of which Peer Reviewed: 6 results,  Open Access: 4 results) Presentation (2 results) (of which Int'l Joint Research: 1 results) Book (1 results)

  • [Journal Article] Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis.2020

    • Author(s)
      Suzuki F, Sato N, Ota M, Sugiyama A, Shigeyamay, Morimoto E, Kimura Y, Wakasugi N, Takahashi Y, Futamura A, Kawamura M, Ono K, Nakamura M, Sano A, Watanabe Masako, Mathuda H, Abe O
    • Journal Title

      J Neurol Sci.

      Volume: 408 Pages: 116545-116545

    • DOI

      10.1016/j.jns.2019.116545

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel VPS13A gene mutations in a South Asian, Indian patient with chorea-acanthocytosis.2020

    • Author(s)
      Futamura A, Nakamura M, Kawamura M Sano A, Ono K
    • Journal Title

      Neurology India

      Volume: 68 Pages: 206-208

    • DOI

      10.4103/0028-3886.279653

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report.2020

    • Author(s)
      Tada Y, Hamaguchi T, Ikeda Y, Iwasa K, Nishida Y, Nakamura M, Sano A, Yamada M
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 412 Pages: 116731-116731

    • DOI

      10.1016/j.jns.2020.116731

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein2019

    • Author(s)
      Yuka Urata, Masayuki Nakamura, Natsuki Sasaki, et al.
    • Journal Title

      Neurology. Genetics

      Volume: 5

    • DOI

      10.1212/nxg.0000000000000328

    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis2019

    • Author(s)
      Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, et al.
    • Journal Title

      Neurol. Genet.

      Volume: 5

    • DOI

      10.1212/nxg.0000000000000332

    • NAID

      120006859409

    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.2019

    • Author(s)
      Murakami T, Abe D, Matsumoto H, Tokimura R, Abe M, Tiksnadi A, Kobayashi S, Kaneko C, Urata Y, Nakamura M, Sano A, Ugawa Y
    • Journal Title

      BMC neurology

      Volume: 19 Pages: 1526-1529

    • DOI

      10.1186/s12883-019-1526-9

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 神経有棘赤血球症の遺伝子変異と分子病態2019

    • Author(s)
      中村雅之
    • Journal Title

      MDSJ Letters

      Volume: 12 Pages: 57-60

    • NAID

      40022095831

    • Related Report
      2019 Annual Research Report
    • Open Access
  • [Journal Article] 精神症状を伴う神経変性疾患2019

    • Author(s)
      中村雅之、佐野 輝
    • Journal Title

      臨床精神医学

      Volume: 48 Pages: 75-81

    • Related Report
      2019 Annual Research Report
  • [Presentation] Molecular diagnosis and symptoms of the six cases of McLeod syndrome.2018

    • Author(s)
      Urata Y, Nakamura M, Hiwatashi H, Yokoyama I, Meguro K, Sano A
    • Organizer
      WFSBP Asia Pacific Regional Congress of Biological Psychiatry
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Novel pathogenic mutations in the VPS13A gene in Japanese patients with Chorea-acanthocytosis and clinical diversities.2018

    • Author(s)
      Nishida Y, Nakamura M, Sano A
    • Organizer
      WFSBP Asia Pacific Regional Congress of Biological Psychiatry
    • Related Report
      2018 Annual Research Report
  • [Book] 有棘赤血球舞踏病、神経変性疾患ハンドブックー神経難病へのエキスパートアプローチ2018

    • Author(s)
      中村雅之、佐野 輝
    • Total Pages
      13
    • Publisher
      南江堂
    • ISBN
      4524256172
    • Related Report
      2018 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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