Apolipoprotein C‐III O‐glycoform profiling of 500 serum samples by matrix‐assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation. (17th July 2020)

• Record Type: Journal Article
• Authors: Wada, Yoshinao; Okamoto, Nobuhiko
• Other Names: Chu Ivan K. guestEditor.; O'Hair Richard A. J. guestEditor.; Siu K. W. Michael guestEditor.; Jiang Guibin guestEditor.; Wada Yoshinao guestEditor.; Sze Newman Siu‐Kwan guestEditor.; Oh Han Bin guestEditor.; Shiea Jentaie guestEditor.; Armentrout Peter B. guestEditor.
• Is Part Of: Journal of mass spectrometry. Volume 56:Number 4(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-07-17
• Subjects: apolipoprotein CIII -- CDG -- glycoform profile -- MALDI -- O‐glycosylation; Mass spectrometry -- Periodicals; 543.65
• DOI: 10.1002/jms.4597
• Languages: English
• ISSNs: 1076-5174

Abstract

Abstract: Congenital disorders of glycosylation (CDG) are caused by defects in various genes governing glycoconjugate biosynthesis. Several responsible genes have been identified in the protein N ‐glycosylation process. Analyses of mucin‐type core‐1 O ‐glycoform of apolipoprotein C‐III (apoCIII) have recently revealed combined N ‐ and O ‐glycosylation defects. We applied matrix‐assisted laser desorption/ionization mass spectrometry profiling of apoCIII glycoforms to 500 serum samples for CDG screening, and reference values were determined. The content of unglycosylated apoCIII was low in early infancy, indicating that the O ‐glycan occupancy should be assessed based on age‐matched reference values. The samples from patients with mutations in the ALG1, ATP6V0A2, B4GALT1, COG2, GCS1, PGM1, SLC35A2, and TRAPPC11 genes were analyzed. B4GALT1‐ and TRAPPC11‐CDG were accompanied by under‐sialylation of O ‐glycans and are now recognized as combined N ‐ and O ‐glycosylation disorders.