Wada Yoshinao, Kadoya Machiko, Okamoto Nobuhiko
Department of Obstetric Medicine, Osaka Women's and Children's Hospital (OWCH), 840 Murodo-cho, Izumi, Osaka 594-1101, Japan.
Department of Molecular Medicine, Osaka Women's and Children's Hospital (OWCH), 840 Murodo-cho, Izumi, Osaka 594-1101, Japan.
Mass Spectrom (Tokyo). 2022;11(1):A0113. doi: 10.5702/massspectrometry.A0113. Epub 2022 Dec 28.
Dried blood spot (DBS) is the standard specimen for the newborn screening of inborn errors of metabolism (IEM) by tandem mass spectrometry. Availability of DBS for the mass spectrometric analysis of the diagnostic marker proteins, transferrin (Tf) and apolipoprotein CIII (apoCIII), of congenital disorders of glycosylation (CDG) was examined. Recovery of Tf from DBS was only slightly reduced compared with fresh serum. Although oxidation of the core polypeptides was observed, glycans of Tf and apoCIII were unaffected by storage of DBS in the ambient environment for at least 1 month. The combination of DBS and the triple quadrupole mass spectrometer used for IEM screening was sufficient to characterize the aberrant glycoprofiles of Tf and apoCIII in CDG. DBS or dried serum spot on filter paper can reduce the cost of sample transportation and potentially promote mass spectrometric screening of CDG.
干血斑（DBS）是通过串联质谱法对先天性代谢缺陷（IEM）进行新生儿筛查的标准样本。本研究检测了是否可利用DBS对先天性糖基化障碍（CDG）的诊断标志物蛋白转铁蛋白（Tf）和载脂蛋白CIII（apoCIII）进行质谱分析。与新鲜血清相比，从DBS中回收Tf仅有轻微减少。尽管观察到核心多肽发生氧化，但Tf和apoCIII的聚糖不受DBS在环境中储存至少1个月的影响。用于IEM筛查的DBS与三重四极杆质谱仪相结合足以鉴定CDG中Tf和apoCIII的异常糖谱。滤纸上的DBS或干血清斑可降低样品运输成本，并有可能推动CDG的质谱筛查。
