Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
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DOI：
10.1007/s10545-018-0144-9
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发表时间：
2018-05
影响因子：
4.2
通讯作者：
van Scherpenzeel M
中科院分区：
文献类型：
--
作者：
Abu Bakar N;Lefeber DJ;van Scherpenzeel M
临床糖组学包括一系列不同的分析方法来分析糖基结构，这为糖基化的机制提供了见解。在临床诊断中，糖组学作为基因变异的功能性读数，可以形成治疗开发的基础，正如PGM1-CDG所描述的那样。糖组学与基因组学的整合已经导致了以前未知的糖基化疾病的阐明，即CCDC115-CDG， TMEM199-CDG, ATP6AP1-CDG， MAN1B1-CDG和PGM1-CDG。本文综述了蛋白质糖基化的研究进展，并介绍了不同的糖组学方法，从凝胶电泳到质谱（MS），从游离聚糖到完整糖蛋白。糖组学在先天性糖基化疾病（CDG）诊断中的作用，包括诊断流程图和已知CDG亚型的糖组学数据概述。本文最后展望了未来的发展方向，包括N-和o -糖蛋白组的全系统定位、完整糖蛋白谱分析和糖代谢分析。这些新进展将为开发个性化治疗提供更多的见解和机会。对于先天性代谢错误尤其如此，这是可以接受因果治疗的，因为通过补充治疗的干预可以直接针对分子水平上的发病机制。
Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG. This review provides an introduction into protein glycosylation and presents the different glycomics methodologies ranging from gel electrophoresis to mass spectrometry (MS) and from free glycans to intact glycoproteins. The role of glycomics in the diagnosis of congenital disorders of glycosylation (CDG) is presented, including a diagnostic flow chart and an overview of glycomics data of known CDG subtypes. The review ends with some future perspectives, showing upcoming technologies as system wide mapping of the N- and O-glycoproteome, intact glycoprotein profiling and analysis of sugar metabolism. These new advances will provide additional insights and opportunities to develop personalized therapy. This is especially true for inborn errors of metabolism, which are amenable to causal therapy, because interventions through supplementation therapy can directly target the pathogenesis at the molecular level.
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