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Investigation of pathogenesis of Fabry nephropathy in novel model mouse

Research Project

Project/Area Number 23390223
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Kidney internal medicine
Research InstitutionNiigata University

Principal Investigator

MARUYAMA Hiroki  新潟大学, 医歯(薬)学総合研究科, 特任教授 (10293218)

Co-Investigator(Kenkyū-buntansha) ISHII Satoshi  大分大学, 医学部, 研究員 (00222935)
Co-Investigator(Renkei-kenkyūsha) NISHIKAWA Yuji  旭川医科大学, 医学部, 教授 (90208166)
NAKAZAWA Mikio  新潟大学, 医歯学系, 教授 (80143759)
MATSUYAMA Kiyoji  札幌医科大学, 保健医療学部, 教授 (40209664)
Research Collaborator HARA Masanori  新潟県立吉田病院, 小児科, 部長
Project Period (FY) 2011-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥16,380,000 (Direct Cost: ¥12,600,000、Indirect Cost: ¥3,780,000)
Fiscal Year 2014: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2013: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2012: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2011: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Keywordsファブリー病 / 多尿 / 尿細管障害 / 髄質外層内帯 / ヘンレ上行脚太い部ヘンレ上行脚太い部 / ウロモジュリン / NKCC2 / ヘンレ上行脚太い部 / 骨粗鬆症 / 成長障害 / ファブリー腎症 / TAL / Uromodulin / lamellar body / Gb3 / オートファジー不全 / p62 / 心不全
Outline of Final Research Achievements

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from a deficiency in the activity of alpha-galactosidase A. This enzyme deficiency causes the systemic lysosomal accumulation of glycolipids, primarily globotriaosylceramide (Gb3), in the vascular endothelium and other tissues. Morbidity and mortality from FD, caused by renal failure, cardiac disease, and early-onset stroke. Glako mice lack significant kidney disease. We generated symptomatic mouse model (G3stg/Glako) by cross-breeding Glako mice with transgenic mice expressing human Gb3 synthase. Polyuria was the conspicuous manifestation. The vacuolation dominated in medullary thick ascending limb of Henle’s loop (TAL) and the fibrosis mainly appeared in around mTAL. Real-time RT-PCR, western blot and immunohistochemical analyses revealed that the expression of TAL specific proteins, uromodulin and N+-K+-2C- cotransporter, were significantly decreased. These caused salt-wasting polyuria in G3stg/Glako.

Report

(5 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • 2011 Annual Research Report

Research Products

(5 results)

All 2013 2011 Other

All Journal Article (2 results) (of which Peer Reviewed: 2 results) Presentation (3 results)

  • [Journal Article] A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis.2013

    • Author(s)
      A. Taguchi, H. Maruyama, M. Nameta, T. Yamamoto, J. Matsuda, A B. Kulkaruni, H. Yoshioka and S. Ishii.
    • Journal Title

      Biochem. J.

      Volume: 456 Pages: 373-383

    • DOI

      10.1042/bj20130825

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine2013

    • Author(s)
      Hiroki Maruyama
    • Journal Title

      Clin J Am Soc Nephrol

      Volume: 8 Pages: 629-636

    • DOI

      10.2215/cjn.08780812

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Presentation] 新規ファブリー病モデルマウスの病態の解析2011

    • Author(s)
      丸山弘樹
    • Organizer
      大54回日本腎臓学会学術総会
    • Place of Presentation
      パシフィコ横浜(横浜市)
    • Year and Date
      2011-06-16
    • Related Report
      2011 Annual Research Report
  • [Presentation] 新規ファブリー病モデルマウスの病態の解析.

    • Author(s)
      丸山弘樹、西川祐司、行田正晃、山本 格、成田一衛.
    • Organizer
      第56回日本腎臓学会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
  • [Presentation] 新規ファブリー病モデルマウスの骨病変

    • Author(s)
      丸山弘樹
    • Organizer
      日本腎臓学会
    • Place of Presentation
      パシフィコ横浜(横浜市)
    • Related Report
      2012 Annual Research Report

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Published: 2011-04-05   Modified: 2019-07-29  

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