Mass spectrometry in the detection and diagnosis of congenital disorders of glycosylation
Mass spectrometry in the detection and diagnosis of congenital disorders of glycosylation
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DOI：
10.1255/ejms.836
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发表时间：
2007-01-01
影响因子：
1.3
通讯作者：
Wada, Yoshinao
中科院分区：
文献类型：
--
作者：
Wada, Yoshinao
蛋白质、低聚糖等大分子物质的质谱学尚未应用于临床，而小分子代谢物的质谱学被广泛应用于各种先天性疾病的筛查和诊断。先天性糖基化紊乱(CDG)是一组新发现的疾病，源于蛋白质糖基化生物合成途径的缺陷，除非对糖蛋白分子进行分析，否则患者永远无法得到决定性的诊断。我们已经构建了一个诊断系统，其中糖蛋白和糖肽的MS识别其糖链部分的异常。该计划预计将揭示CDG的流行情况，并展示MS在新兴医学、疾病糖组学和糖蛋白组学领域的重要作用。
Mass spectrometry (MS) of large molecules such as proteins and oligosaccharides has not been employed in clinical practices, while that of small metabolites is widely used for the screening and diagnosis of various congenital diseases. Congenital disorders of glycosylation (CDG) is a newly recognized group of diseases derived from defects in the biosynthetie pathway of protein glycosylation and the patients are never decisively diagnosed unless the glycoprotein molecules are analyzed. We have constructed a diagnostic system where MS of glycoproteins and glycopeptides identifies abnormalities in their glycan moieties. This program is anticipated to reveal the prevalence of CDG and to demonstrate the essential role of MS in the emerging field of medicine, disease glycomics and glycoproteomics.