转铁蛋白的电喷雾电离质谱分析:四极杆质谱分析仪用于先天性糖基化疾病。

Q3 Physics and Astronomy Mass spectrometry Pub Date : 2022-01-01 Epub Date: 2022-04-15 DOI:10.5702/massspectrometry.A0103
Yoshinao Wada, Nobuhiko Okamoto
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引用次数: 3

摘要

电喷雾电离(ESI)质谱法检测转铁蛋白由于位点占用减少或加工失败导致的n -糖基化异常,可用于诊断先天性糖基化障碍(CDG)。飞行时间质谱仪广泛用于分离m/z 1700 - 3000范围内的25-45个带电离子,尽管存在不当反褶积的风险,但仍会产生一个零电荷质量分布。在这项研究中,多重带电离子质谱的低m/z区域使CDG的分析变得可靠。新生儿先天性代谢错误筛查的标准仪器——三联四极杆质谱仪,鉴定了m/z 1970 - 2000区域内影响PMM2、ALG14、SLC35A1、SLC35A2、MAN1B1和PGM1的不同类型CDG的关键离子特征。电荷反褶积被用作验证结果的补充工具。有必要为评估设定一个截止水平,因为即使在对照受试者中也观察到糖基化失败或唾液化减少的小峰。该方法和工作流程便于临床实验室中基于质谱的分析和CDG筛选的实施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation.

Electrospray ionization (ESI) mass spectrometry of transferrin can be used to diagnose congenital disorders of glycosylation (CDG) by detecting abnormal N-glycosylation due to reduced site occupancy or processing failure. Time-of-flight mass spectrometers are widely used to separate 25-45 charged ions in the m/z 1,700-3,000 range, and a summed zero-charge mass distribution is generated despite the risk of improper deconvolution. In this study, the low m/z region of the multiply-charged ion mass spectrum enabled a robust analysis of CDG. A triple quadrupole mass spectrometer, the standard instrument for newborn screening for inborn errors of metabolism, permitted the identification of the key ions characteristic of different types of CDG affecting PMM2, ALG14, SLC35A1, SLC35A2, MAN1B1 and PGM1 in the m/z 1,970-2,000 region. Charge deconvolution was used as a complementary tool for validating the findings. It was necessary to set a cutoff level for the evaluation, since small peaks indicating glycosylation failure or reduced sialylation were observed, even in control subjects. This method and workflow facilitates the implementation of MS-based analyses and the screening of CDG in clinical laboratories.

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来源期刊
Mass spectrometry
Mass spectrometry Physics and Astronomy-Instrumentation
CiteScore
1.90
自引率
0.00%
发文量
3
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