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Clarification of the relation between the pathology of neurometabolic diseases and peroxisomal function

Research Project

Project/Area Number 24390261
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypePartial Multi-year Fund
Section一般
Research Field Pediatrics
Research InstitutionGifu University

Principal Investigator

SHIMOZAWA Nobuyuki  岐阜大学, 生命科学総合研究支援センター, 教授 (00240797)

Co-Investigator(Renkei-kenkyūsha) TAKASHIMA Shigeo  岐阜大学, 生命科学総合研究支援センター, 助教 (50537610)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000)
Fiscal Year 2014: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2013: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2012: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000)
Keywordsペルオキシソーム / 脂質代謝異常 / 発生異常 / iPS細胞 / モデルフィッシュ / ゲノム編集 / 脂肪酸代謝異常 / 網羅的解析 / 脱髄 / モデル生物 / バイオインフォマティクス / 脱随
Outline of Final Research Achievements

We have established new analysis system of peroxisomal metabolites, such as VLCFAs, phytanic acid, pristanic acid, and ether lipid derivatives, 1-glycerol-sn-3-phosphates, using combined GC/MS and UPLC/MS/MS, and applied this system to the diagnosis for multiple peroxisomal diseases in Japan. For 3 years of this grant, we identified 98 Japanese patients with peroxisomal diseases, including 8 patients with peroxisome biogenesis disorders (PBD), and 49 male patients and 41 female carriers with adrenoleukodystrophy (ALD). We also identified several increased saturated and unsaturated fatty acids in fibroblasts from PBD patients, using our newly developed system.
We induced iPSCs from PBD fibroblasts and further differentiated into neural stem cells and neurons. We are examining the content of above metabolites in iPSCs and differentiated neurons to find out what is specifically affected in the patient neural lineage.

Report

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

Research Products

(31 results)

All 2014 2013 2012 Other

All Journal Article (15 results) (of which Peer Reviewed: 8 results,  Open Access: 1 results) Presentation (8 results) (of which Invited: 4 results) Book (5 results) Remarks (3 results)

  • [Journal Article] Evaluation of fourier transform infrared spectroscopy for diagnosis of peroxisomal diseases with abnormal very-long-chain fatty acid metabolism.2014

    • Author(s)
      Isogawa M, Yoshida S, Shimozawa N
    • Journal Title

      Am J Analytical Chemistry

      Volume: 5 Pages: 359-366

    • DOI

      10.4236/ajac.2014.56043

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ペルオキシソーム病2014

    • Author(s)
      下澤伸行
    • Journal Title

      別冊日本臨床 新領域別症候群シリーズ 神経症候群Ⅲ

      Volume: 28 Pages: 728-736

    • NAID

      10005659669

    • Related Report
      2014 Annual Research Report
  • [Journal Article] ペルオキシソーム病(副腎白質ジストロフィー、ペルオキシソーム形成異常症)2014

    • Author(s)
      下澤伸行
    • Journal Title

      小児科診療

      Volume: 77 Pages: 548-551

    • Related Report
      2014 Annual Research Report
  • [Journal Article] ペルオキシソーム病2014

    • Author(s)
      下澤伸行
    • Journal Title

      別冊日本臨床 新領域別症候群シリーズ 神経症候群Ⅳ

      Volume: 31 Pages: 229-236

    • NAID

      10005659669

    • Related Report
      2014 Annual Research Report
  • [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013

    • Author(s)
      Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
    • Journal Title

      Neurogenetics.

      Volume: 14 Pages: 225-232

    • DOI

      10.1007/s10048-013-0375-8

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome.2013

    • Author(s)
      Hama K, Nagai T, Nishizawa C, Ikeda K, Morita M, Satoh N, Nakanishi H, Imanaka T, Shimozawa N, Taguchi R, Inoue K, Yokoyama K.
    • Journal Title

      Lipids

      Volume: 48 Pages: 1253-1267

    • DOI

      10.1007/s11745-013-3848-5

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Newly identified milder phenotype of peroxsome biogenesis disorder caused by mutated PEX3 gene.2013

    • Author(s)
      Iwasa M, Shimozawa N, et al
    • Journal Title

      Brain Dev

      Volume: (in press) Pages: 842-848

    • DOI

      10.1016/j.braindev.2012.10.017

    • Related Report
      2013 Annual Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Tysndl Deficiency in Mice Interferes with the Peroxisomal Localization of PTS2 Enzymes, Causing Lipid Metabolic Abnormalities and Male Infertility2013

    • Author(s)
      Yumi Mizuno, et al.
    • Journal Title

      PLoS genet

      Volume: 9

    • DOI

      10.1371/journal.pgen.1003286

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Contiguous ABCD1 DXS1357E deletion syndrome : Report of an autopsy case2013

    • Author(s)
      Iwasa M, Yamagata T, Mizuguchi M, Itoh M, Matsumoto A, Hironaka M, Honda A, Momoi MY, Shimozawa N
    • Journal Title

      Neuropathology

      Volume: 33 Pages: 292-298

    • DOI

      10.1111/j.1440-1789.2012.01348.x

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ベルオキシソーム病2013

    • Author(s)
      下澤伸行
    • Journal Title

      小児科診療

      Volume: 76 Pages: 35-43

    • Related Report
      2012 Annual Research Report
  • [Journal Article] 極長鎖脂肪酸の反復検査で診断し得たD-bifunctional protein欠損症の1例2013

    • Author(s)
      塩田睦記、下澤伸行、他
    • Journal Title

      東京女子医科大学雑誌

      Volume: 83

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Mild case of D'bifunctional protein deficiency associated with novel genemutations.2012

    • Author(s)
      Mizumoto H, Shimozawa N, et al
    • Journal Title

      Pediatr Int

      Volume: 54 Pages: 303-304

    • DOI

      10.1111/j.1442-200x.2012.03562.x

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome and rhizomelic chondrodysplasia punctata2012

    • Author(s)
      Kanzawa, N., et al.
    • Journal Title

      J Lipid Res

      Volume: 53 Pages: 653-63

    • DOI

      10.1194/jlr.m021204

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ペルオキシソーム病2012

    • Author(s)
      下澤伸行
    • Journal Title

      Brain Medical

      Volume: 24 Pages: 261-270

    • NAID

      10005659669

    • Related Report
      2012 Annual Research Report
  • [Journal Article] 副腎白質ジストロフィーの診療アップデート2012

    • Author(s)
      下澤伸行
    • Journal Title

      小児内科

      Volume: 44 Pages: 1667-1672

    • Related Report
      2012 Annual Research Report
  • [Presentation] ペルオキシソーム病のアップデート~基礎と臨床の融合2014

    • Author(s)
      下澤伸行
    • Organizer
      第56回日本小児神経学会 教育講演
    • Place of Presentation
      浜松
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 副腎白質ジストロフィー2014

    • Author(s)
      下澤伸行
    • Organizer
      第56回日本小児神経学会 シンポジウム
    • Place of Presentation
      浜松
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 副腎白質ジストロフィー診療の現状と提案-診療ガイドラインの作成に向けて2012

    • Author(s)
      下澤伸行
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      十六プラザ(岐阜市)(招待講演)
    • Year and Date
      2012-11-17
    • Related Report
      2012 Annual Research Report
  • [Presentation] ペルオキシソーム代謝異常症2012

    • Author(s)
      下澤伸行
    • Organizer
      第42回小児神経学セミナー
    • Place of Presentation
      湘南国際村センター(葉山町)(招待講演)
    • Year and Date
      2012-10-07
    • Related Report
      2012 Annual Research Report
  • [Presentation] ペルオキシソーム代謝異常症 -ALDの克服を目指して-2012

    • Author(s)
      下澤伸行
    • Organizer
      第10回東北先天代謝異常症治療研究会
    • Place of Presentation
      艮陸会館(仙台市)(招待講演)
    • Year and Date
      2012-06-08
    • Related Report
      2012 Annual Research Report
  • [Presentation] 副腎白質ジストロフィー 診断・治療のupdate2012

    • Author(s)
      下澤伸行
    • Organizer
      第54回日本小児神経学会
    • Place of Presentation
      ロイトン札幌(札幌市)(招待講演)
    • Year and Date
      2012-05-18
    • Related Report
      2012 Annual Research Report
  • [Presentation] Peroxisomal disorder

    • Author(s)
      Shimozawa N
    • Organizer
      2th Asian and Oceanian Congress on Child Neurolog
    • Place of Presentation
      Riyadh (サウジアラビア王国)
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Diagnosis and treatment of Peroxisomal diseases

    • Author(s)
      Shimozawa N
    • Organizer
      3rd ACIMD & 56th JSIMD
    • Place of Presentation
      Maihama
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Book] 引いて調べる先天代謝異常症2014

    • Author(s)
      下澤伸行(分担)
    • Total Pages
      175
    • Publisher
      診断と治療社
    • Related Report
      2014 Annual Research Report
  • [Book] プログレッシブ生命科学2014

    • Author(s)
      下澤伸行(分担)
    • Total Pages
      312
    • Publisher
      南山堂
    • Related Report
      2014 Annual Research Report
  • [Book] ペルオキシソーム病ハンドブック20132013

    • Author(s)
      下澤伸行
    • Total Pages
      67
    • Publisher
      日本臨床社
    • Related Report
      2013 Annual Research Report
  • [Book] 副腎白質ジストロフィー診療ハンドブック20132013

    • Author(s)
      下澤伸行編集
    • Total Pages
      71
    • Publisher
      西濃印刷
    • Related Report
      2013 Annual Research Report
  • [Book] ペルオキシソーム病(副腎白質ジストロフィー)in最新ガイドライン準拠 小児科 診断・治療指針2012

    • Author(s)
      下澤伸行 (遠藤文夫 総編集)
    • Total Pages
      3
    • Publisher
      中山書店、東京
    • Related Report
      2012 Annual Research Report
  • [Remarks] ペルオキシソーム病ホームページ

    • URL

      http://www1.gifu-u.ac.jp/~lsrc/dgr/shimozawa-hp/index.html

    • Related Report
      2014 Annual Research Report
  • [Remarks] ペルオキシソーム病ホームページ

    • URL

      http://www1.gifu-u.ac.jp/~lsrc/dgr/shimozawa-hp/

    • Related Report
      2013 Annual Research Report
  • [Remarks]

    • URL

      http://www.gifu-u.ac.jp/~isrc/dgr/shimozawa-hp/

    • Related Report
      2012 Annual Research Report

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Published: 2012-04-23   Modified: 2019-07-29  

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