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

LC-MS/MS 筛查甾醇代谢异常的遗传性疾病

• 批准号: 20591309
• 负责人: HONDA Akira
• 金额: $ 1.66万
• 依托单位: Tokyo Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20591309/
• 关键词: 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

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.

我们开发了一种高度灵敏且特异的方法，用于分析生物样品中的甾醇谱，将不到 10μl 干燥血清中的甾醇衍生为吡啶甲酰酯，并通过高效液相色谱-串联质谱 (HPLC-MS/MS) 进行分析。使用电喷雾电离 (ESI) 模式，除了胆固醇之外，还可以在 50 分钟内同时定量鉴定出 50 多种胆固醇相关的甾醇。对 20 种可用甾醇的吡啶甲酰酯进行了分析，发现柱上检测限小于 1 pg，并且观察到这些甾醇具有足够的重现性和回收率，本方法为鉴定和定量提供了可靠且可重现的结果。中性甾醇的含量，特别是在少量血液样本中，这对于甾醇代谢异常的遗传性疾病的血清学诊断非常有用。

项目成果

Highly sensitive and specific analysis of sterol profiles in biological samples by HPLC-ESI-MS/MS

• DOI: 10.1016/j.jsbmb.2010.03.030
• 发表时间: 2010-08-01
• 期刊: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
• 影响因子: 4.1
• 作者: Honda, Akira;Miyazaki, Teruo;Matsuzaki, Yasushi
• 通讯作者: Matsuzaki, Yasushi

Highly-sensitive quantification of serum malonate, a possible marker for de novo lipogenesis, by LC-ESI-MS/MS

通过 LC-ESI-MS/MS 对血清丙二酸进行高灵敏定量，血清丙二酸是从头脂肪生成的可能标志物

• 发表时间: 2009
• 期刊: J. Lipid Res. 50
• 作者: Honda A;Yamashita K;Ikegami T;Hara T;Miyazaki T;Hirayama T;Numazawa M;Matsuzaki Y
• 通讯作者: Matsuzaki Y

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

先天性甾醇代谢障碍HPLC-MS/MS同步诊断系统的建立

• 发表时间: 2009
• 作者: 本多彰;宮崎照雄;池上正;原孝;松崎靖司
• 通讯作者: 松崎靖司

Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS

• DOI: 10.1194/jlr.d800040-jlr200
• 发表时间: 2009-02-01
• 期刊: JOURNAL OF LIPID RESEARCH
• 影响因子: 6.5
• 作者: Honda, Akira;Yamashita, Kouwa;Matsuzaki, Yasushi
• 通讯作者: Matsuzaki, Yasushi

Cholesterol and chronic hepatitis C infection

胆固醇和慢性丙型肝炎感染

• 发表时间: 2011
• 期刊: Hepatol. Res(In press)
• 作者: Honda A;Matsuzaki Y
• 通讯作者: Matsuzaki Y