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Development of phenotype predictive diagnosis method and treatment in adrenoleukodystrophy by the methods combines patient resource and disease model

Research Project

Project/Area Number 15H04875
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
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) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥16,900,000 (Direct Cost: ¥13,000,000、Indirect Cost: ¥3,900,000)
Fiscal Year 2017: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2015: ¥8,580,000 (Direct Cost: ¥6,600,000、Indirect Cost: ¥1,980,000)
Keywords副腎白質ジストロフィー / 脱髄 / 造血幹細胞移植 / 早期診断 / 病型規定因子 / 神経接着因子 / マイクロアレイ解析 / 二頭酵素欠損症 / 神経細胞接着因子 / 大脳型発症因子 / 疾患モデルマウス / 極長鎖脂肪酸 / ペルオキシソーム / 造血細胞移植 / モデル生物 / iPS細胞 / モデルマウス
Outline of Final Research Achievements

Achievement of early diagnosis system by academia: 77 cases of ALD patients were diagnosed and the latest medical information was provided. Among them, cerebral type patients as transplant indication were provided in the shortest 2 days, leading to improvement of patient prognosis from early transplantation.
Neuronal cell adhesion factor was specified as cerebral-type related candidate genes by microarray analysis of RNA samples from the patients between before and after transplantation. Even in gene expression analysis with further cases, variation of the factor was verified. Meanwhile, there was no clear difference of the factor between patient samples from cerebral type and those from non-cerebral type AMN. As a result of gene expression analysis of the liver by administering Lorenzo’s Oil to mice, it became clear that gene expression of peroxisomal D-bifunctional protein (DBP) was increased. We will also conduct research on the clinical application to DBP deficient patients.

Report

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

    (22 results)

All 2018 2017 2016 2015 Other

All Journal Article (10 results) (of which Peer Reviewed: 9 results,  Open Access: 1 results) Presentation (6 results) (of which Invited: 6 results) Book (4 results) Remarks (2 results)

  • [Journal Article] Profiling and Imaging of Phospholipids in Brains of Abcd1-Deficient Mice2018

    • Author(s)
      Hama K, Fujiwara Y, Morita M, Yamazaki F, Nakashima Y, Takei S, Takashima S, Setou M, Shimozawa N, Imanaka T, Yokoyama K.
    • Journal Title

      Lipids

      Volume: 53 Issue: 1 Pages: 85

    • DOI

      10.1002/lipd.12022

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.2017

    • Author(s)
      Shigeo Takashima, Kayoko Toyoshi, Takahiro Itoh, Naomi Kajiwara, Ayako Honda, Akiko Ohba, Shoko Takemoto, Satoshi Yoshida, Nobuyuki Shimozawa.
    • Journal Title

      Molecular Genetics and Metabolism

      Volume: 120 Issue: 3 Pages: 255-268

    • DOI

      10.1016/j.ymgme.2016.12.013

    • Related Report
      2017 Annual Research Report 2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene2017

    • Author(s)
      Horikawa Y, Enya M, Yoshikura N, Kitagawa J, Takashima S, Shimozawa N, Takeda J.
    • Journal Title

      Neuro Endocrinol Lett

      Volume: 38 Pages: 13-18

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice.2017

    • Author(s)
      Morita M, Honda A, Kobayashi A, Watanabe Y, Watanabe S, Kawaguchi K, Takashima S, Shimozawa N, Imanaka T.
    • Journal Title

      JIMD Rep.

      Volume: 38 Pages: 67-74

    • DOI

      10.1007/8904_2017_32

    • ISBN
      9783662566091, 9783662566107
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Highly asymmetric and subacutely progressive motor weakness with unilateral T2-weighted high intensities along the pyramidal tract in the brainstem in adrenomyeloneuropathy2017

    • Author(s)
      Tsuboi Takashi、Tanaka Yasuhiro、Yoshida Yusuke、Nakamura Tomohiko、Shimozawa Nobuyuki、Katsuno Masahisa
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 381 Pages: 107-109

    • DOI

      10.1016/j.jns.2017.08.018

    • NAID

      120006382257

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel method for determining peroxisomal fatty acid β-oxidation.2016

    • Author(s)
      Masashi Morita, Shun Matsumoto, Airi Okazaki, Kaito Tomita, Shiro Watanabe, Kosuke Kawaguchi, Daishiro Minato, Yuji Matsuya, Nobuyuki Shimozawa, Tsuneo Imanaka.
    • Journal Title

      J Inherit Metab Dis

      Volume: 39 Issue: 5 Pages: 725-731

    • DOI

      10.1007/s10545-016-9952-y

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Serial Monitoring of Plasma Levetiracetam Levels in a Child With Epilepsy Undergoing Cord Blood Transplantation.2016

    • Author(s)
      Motobayashi M, Morita D, Kurata T, Shigemura T, Nakazawa Y, Shimozawa N, Inaba Y.
    • Journal Title

      Pediatric Neurology

      Volume: 64 Pages: e5-e6

    • DOI

      10.1016/j.pediatrneurol.2016.07.009

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] First Japanese case of Zellweger syndrome with a mutation in PEX142015

    • Author(s)
      Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T
    • Journal Title

      Pediatrics International

      Volume: 57 Issue: 6 Pages: 1189-1192

    • DOI

      10.1111/ped.12713

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine <i>β</i>-Synthase Deficiency2015

    • Author(s)
      Sasai H, Shimozawa N, Kawamoto N, Yamamoto T, Kimura T, Kawamoto M, Matsui E, Fukao T
    • Journal Title

      The Tohoku Journal of Experimental Medicine

      Volume: 237 Issue: 4 Pages: 323-327

    • DOI

      10.1620/tjem.237.323

    • NAID

      130005112236

    • ISSN
      0040-8727, 1349-3329
    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 副腎白質ジストロフィー2015

    • Author(s)
      下澤伸行
    • Journal Title

      脳と発達

      Volume: 47 Pages: 117-121

    • NAID

      130005005771

    • Related Report
      2015 Annual Research Report
  • [Presentation] 副腎白質ジストロフィー(ALD)新生児マススクリーニングの意義と課題2017

    • Author(s)
      下澤伸行
    • Organizer
      第44回日本マススクリーニング学会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 小児で鑑別すべき重要な代謝性神経疾患-副腎白質ジストロフィーとペルオキシソーム病-2017

    • Author(s)
      下澤伸行
    • Organizer
      第271回 日本小児科学会東海地方会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 副腎白質ジストロフィー(ALD)診療ガイドライン作成に向けて2016

    • Author(s)
      下澤伸行
    • Organizer
      第21回日本ライソゾーム病研究会
    • Place of Presentation
      東京
    • Year and Date
      2016-10-01
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] ペルオキシソーム病 ―拡大する疾患概念と副腎白質ジストロフィー―2016

    • Author(s)
      下澤伸行
    • Organizer
      第13回九州先天代謝異常研究会 特別講演
    • Place of Presentation
      福岡
    • Year and Date
      2016-07-30
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] 副腎白質ジストロフィーの造血幹細胞移植療法の現状と問題点2015

    • Author(s)
      下澤伸行
    • Organizer
      第57回日本先天代謝異常学会
    • Place of Presentation
      大阪
    • Year and Date
      2015-11-14
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] ペルオキシソーム病2015

    • Author(s)
      下澤伸行
    • Organizer
      第11回先天代謝異常学会セミナー
    • Place of Presentation
      大阪
    • Year and Date
      2015-07-18
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Book] 副腎白質ジストロフィー(ALD)診療ガイドライン20172017

    • Author(s)
      厚生労働省難治性疾患等政策研究事業「ライソゾーム病(ファブリー病を含む)に関する調査研究班」監修
    • Total Pages
      46
    • Publisher
      診断と治療者
    • Related Report
      2017 Annual Research Report
  • [Book] 遺伝学的検査・診断・遺伝カウンセリングの上手な進めかた 奥山虎之、山本俊至編2016

    • Author(s)
      下澤伸行
    • Total Pages
      217
    • Publisher
      診断と治療社
    • Related Report
      2016 Annual Research Report
  • [Book] 難病辞典(尾崎承一編)2015

    • Author(s)
      下澤伸行
    • Total Pages
      511
    • Publisher
      学研メディカル秀潤社
    • Related Report
      2015 Annual Research Report
  • [Book] 難治性内分泌代謝疾患Update(成瀬光栄 他編)2015

    • Author(s)
      下澤伸行
    • Total Pages
      174
    • Publisher
      診断と治療社
    • Related Report
      2015 Annual Research Report
  • [Remarks] 岐阜大学ALD&ペルオキシソーム病ホームページ

    • URL

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

    • Related Report
      2017 Annual Research Report
  • [Remarks] ペルオキシソーム病診断研究プロジェクト

    • URL

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

    • Related Report
      2015 Annual Research Report

URL: 

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

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