Clin Chem:新诊断技术可提高血浆蛋白n -糖基谱诊断先天性糖基化障碍的临床敏感性和特异性?

2019-07-21 不详 MedSci原创

在目前发现的大于<span lang="EN-US" style="font-size:12.0pt;mso-bidi-font-size:14.0pt;font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;; mso-fareast-font-family:宋体;mso-bidi-font-family:&quot;Times New Ro

在目前发现的大于130亚型的代谢障碍疾病,先天性糖基化障碍(CDG)是迄今发现的最大一组。CDG的大多数亚型是n -链糖基化紊乱,其碳水化合物残基,即n -聚糖,在翻译后与肽中的天冬酰胺分子连接。为了提高CDG诊断能力,本研究开发并验证了一种采用流动注射-电喷雾电离-四极飞行时间质谱法测定血浆n -聚糖的方法。

PNGase F消化血浆糖蛋白后,使用还原末端的瞬时胺基团将N-聚糖与喹诺酮连接,通过亲水相互作用色谱柱分离,然后通过准确识别质量和量化使用稳定同位素标记糖肽作为内部标准。

研究显示,该方法与其它n -糖基分析方法不同,因为它没有任何来自循环游离聚糖的污染,并且是半定量的。双触角n -聚糖检测范围的下限为63 nmol/L。正常血浆中n -聚糖的丰度均小于1%。研究人员对19例已知诊断11种不同CDG亚型的患者进行了n -糖链异常分析,其中一些患者通过糖缺失转铁蛋白分析发现了正常的n -糖链糖基化。

研究表明,这一方法提高了n -聚糖分析的临床特异性和敏感性。该检测方法提供了新的生物标志物,具有诊断和潜在的治疗意义。

原始出处:

Jie Chen, Xueli Li,Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow InjectionElectrospray IonizationQuadrupole Time-of-Flight Mass Spectrometry

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    2019-08-23 rgjl
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    2019-07-23 lfyang
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    2019-07-23 huirong
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