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Screening of inherited diseases with abnormal sterol metabolism by LC-MS/MS

Research Project

Project/Area Number 20591309
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Embryonic/Neonatal medicine
Research InstitutionTokyo Medical University

Principal Investigator

HONDA Akira  Tokyo Medical University, 医学部, 准教授 (10468639)

Co-Investigator(Kenkyū-buntansha) MATSUZAKI Yasushi  東京医科大学, 医学部, 教授 (50209532)
IKEGAMI Tadashi  東京医科大学, 医学部, 准教授 (40439740)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Fiscal Year 2010: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2009: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2008: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Keywords先天異常学 / ステロール代謝 / 生化学的診断 / 血清診断 / 高速液体クロマトグラフィー / タンデムマススペクトロメトリー / 先天代謝異常 / ステロール / コレステロール / LC-MS/MS / スクリーニング / LC-MS / MS
Research Abstract

We have developed a highly sensitive and specific method for the analysis of sterol profiles in biological samples. Sterols in less than 10μl of dried serum were derivatized into picolinyl esters and analyzed by high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) using the electrospray ionization (ESI) mode. In addition to cholesterol, more than 50 cholesterol related sterols were simultaneously identified within 50 minutes. Quantitative analyses for the picolinyl esters of 20 available sterols were performed. Detection limits were found to be less than 1 pg on-column, and sufficient reproducibilities and recoveries of these sterols were observed. The present method provides reliable and reproducible results for the identification and quantification of neutral sterols, especially in small volumes of blood samples, which is useful for serological diagnosis of inherited diseases with abnormal sterol metabolism.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (22 results)

All 2011 2010 2009 2008 Other

All Journal Article (14 results) (of which Peer Reviewed: 14 results) Presentation (6 results) Book (1 results) Remarks (1 results)

  • [Journal Article] Cholesterol 25-hydroxylation activity of CYP3A2011

    • Author(s)
      Honda A, Miyazaki T, Ikegami T, Iwamoto J, Maeda T, Hirayama T, Saito Y., Teramoto T, Matsuzaki Y
    • Journal Title

      J. Lipid Res(Epub ahead of print)

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Cholesterol and chronic hepatitis C infection2011

    • Author(s)
      Honda A, Matsuzaki Y
    • Journal Title

      Hepatol. Res(In press)

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Highly sensitive and specific analysis of sterol profiles in biological samples by HPLC-ESI-MS/MS.2010

    • Author(s)
      Honda A, Miyazaki T, Ikegami T, Iwamoto J, Yamashita K, Numazawa M, Matsuzaki Y
    • Journal Title

      J. Steroid Biochem. Mol. Biol 121

      Pages: 556-564

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] A SNP of NPC1L1 affects cholesterol absorption in Japanese.2010

    • Author(s)
      Maeda T, Honda A, Ishikawa T, Kinoshita M, Mashimo Y, Takeoka Y, Yasuda D, Kusano J, Tsukamoto K, Matsuzaki Y, Teramoto T
    • Journal Title

      J. Atheroscler. Thromb 17

      Pages: 356-360

    • NAID

      130004444429

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Highly sensitive and specific analysis of sterol profiles in biological samples by HPLC-ESI-MS/MS2010

    • Author(s)
      Honda A, et al.
    • Journal Title

      J.Steroid Biochem.Mol.Biol.

      Volume: 50 Pages: 556-564

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A SNP of NPC1L1 affects cholesterol absorption in Japanese2010

    • Author(s)
      Maeda T, et al.
    • Journal Title

      J.Atheroscler.Thromb.

      Volume: 17 Pages: 356-360

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS2009

    • Author(s)
      Honda A, Yamashita K, Hara T, Ikegami T, Miyazaki T, Shirai M, Xu G, Numazawa M, Matsuzaki Y
    • Journal Title

      J. Lipid Res 50

      Pages: 350-357

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Highly-sensitive quantification of serum malonate, a possible marker for de novo lipogenesis, by LC-ESI-MS/MS2009

    • Author(s)
      Honda A, Yamashita K, Ikegami T, Hara T, Miyazaki T, Hirayama T, Numazawa M, Matsuzaki Y
    • Journal Title

      J. Lipid Res. 50

      Pages: 2124-2130

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS.2009

    • Author(s)
      Honda A, et al.
    • Journal Title

      J.Lipid Res. 50

      Pages: 350-357

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Highly-sensitive quantification of serum malonate, a possible marker for de novo lipogenesis, by LC-ESI-MS/MS.2009

    • Author(s)
      Honda A, et al.
    • Journal Title

      J.Lipid Res. 50

      Pages: 2124-2130

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS.2008

    • Author(s)
      Honda A, Yamashita K, Miyazaki H, Shirai M, Ikegami T, Xu G, Numazawa M, Hara T, Matsuzaki Y
    • Journal Title

      J. Lipid Res 49

      Pages: 2063-2073

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Determination of key intermediates in cholesterol and bile acid biosynthesis by stable isotope dilution mass spectrometry.2008

    • Author(s)
      Yoshida T, Honda A, Miyazaki H, Matsuzaki Y
    • Journal Title

      Anal. Chem. Insights 3

      Pages: 45-60

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS.2008

    • Author(s)
      Honda A, et al.
    • Journal Title

      Journal of Lipid Research 49

      Pages: 2063-2073

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Determination of key intermediates in cholesterol and bile acid biosynthesis by stable isotope dilution mass spectrometry.2008

    • Author(s)
      Yoshida T, et al.
    • Journal Title

      Analytical Chemistry Insights 3

      Pages: 45-60

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Presentation] 原発性胆汁性肝硬変に対するUDCAおよびベザフィブラートによる治療効果発現メカニズムの比較2010

    • Author(s)
      本多彰, 池上正, 中牟田誠, 宮崎照雄, 齋藤吉史, 平山剛, 松崎靖司
    • Organizer
      第46回日本肝臓学会総会(ワークショップ)
    • Place of Presentation
      山形
    • Year and Date
      2010-05-27
    • Related Report
      2010 Final Research Report
  • [Presentation] 原発性胆汁性肝硬変に対するUDCAおよびベザフィブラートによる治療効果発現メカニズムの比較2010

    • Author(s)
      本多彰, 他
    • Organizer
      第46回日本肝臓学会総会
    • Place of Presentation
      山形
    • Year and Date
      2010-05-27
    • Related Report
      2010 Annual Research Report
  • [Presentation] HPLC-MS/MSを用いた先天性ステロール代謝異常症一斉診断システムの確立2009

    • Author(s)
      本多彰, 宮崎照雄, 池上正, 原孝, 松崎靖司
    • Organizer
      第51回日本先天代謝異常学会総会
    • Place of Presentation
      東京
    • Year and Date
      2009-11-07
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] Non-invasive measurement of cholesterol metabolism in patients with HCV infection by using serum marker sterols2009

    • Author(s)
      Ikegami T, Honda A, Nakamuta M, Miyazaki T, Hirayama T, Saitoh Y, Matsuzaki Y.
    • Organizer
      第60回米国肝臓病学会
    • Place of Presentation
      Boston
    • Year and Date
      2009-11-02
    • Related Report
      2010 Final Research Report
  • [Presentation] 原発性胆汁性肝硬変におけるコレステロール代謝の解析2009

    • Author(s)
      本多彰,中牟田誠,松崎靖司
    • Organizer
      第51回日本消化器病学会大会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-16
    • Related Report
      2010 Final Research Report
  • [Presentation] コレステロール・胆汁酸代謝系に関するメタボローム解析方法の開発2008

    • Author(s)
      本多彰, 池上正, 宮崎照雄, 松崎靖司
    • Organizer
      第12回日本肝臓学会大会
    • Place of Presentation
      東京
    • Related Report
      2010 Final Research Report 2008 Annual Research Report
  • [Book] Encyclopedia of Molecular Mechanisms of Disease(F. Lang ed.) (Cerebrotendinous Xanthomatosis)2009

    • Author(s)
      Honda A
    • Publisher
      Springer
    • Related Report
      2010 Final Research Report
  • [Remarks] ホームページ等

    • Related Report
      2010 Final Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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