Clinica Chimica Acta:用质谱法对糖基化II型先天性疾病患者血浆n -聚糖的相对定量研究

2019-08-08 Gladiator MedSci原创

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II型先天性糖基化障碍(CDG-II)是一种极难治愈的疾病,其疾病的特征是高尔基体中糖基处理过程中存在缺陷。在CDG-II亚型定义中,质谱(MS)一直是一个有价值的工具。虽然某些CDG-II亚型与特定的n -糖基结构有关,但其他亚型只在相对水平上产生变化,从而加强了对量化方法的需求。

研究人员收集对照个体的血浆样本,用氘化碘甲烷(I-CD3)衍生化,作为对照和糖基化合物用碘甲烷(I-CH3)衍生化的患者的内部标准,然后进行MALDI MSLC-MS-MS/MS分析。对15CDG-II患者的总n -聚糖进行了评估,并详细考虑了4例分子诊断病例,包括2ATP6V0A2-CDG同胞,以及2MAN1B1-CDG患者,其中1例携带以前未描述的p.Gly536Val突变。

本方法为MS 诊断CDG-II这一当前方法提供了可行的替代方案,新方法将聚糖结构量化为质谱中总和信号的分数,该策略降低了微量组分的可变性。 此外,鉴于其对浓度较低但生物学相关的结构的敏感性,它可能有助于在其他CDG-II亚型中发现新的诊断性聚糖。

原始出处:

E.A.Barbosa,N.doC.Fontes,Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

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    2019-10-17 windight
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    2019-08-10 lfyang
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    2019-08-10 huirong
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    2019-08-10 jeanqiuqiu