Mass Spectrometry
Online ISSN : 2186-5116
Print ISSN : 2187-137X
ISSN-L : 2186-5116
Original Article
Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation
Yoshinao Wada Nobuhiko Okamoto
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J-STAGE Data Supplementary material

2022 Volume 11 Issue 1 Pages A0103


Electrospray ionization (ESI) mass spectrometry of transferrin can be used to diagnose congenital disorders of glycosylation (CDG) by detecting abnormal N-glycosylation due to reduced site occupancy or processing failure. Time-of-flight mass spectrometers are widely used to separate 25–45 charged ions in the m/z 1,700–3,000 range, and a summed zero-charge mass distribution is generated despite the risk of improper deconvolution. In this study, the low m/z region of the multiply-charged ion mass spectrum enabled a robust analysis of CDG. A triple quadrupole mass spectrometer, the standard instrument for newborn screening for inborn errors of metabolism, permitted the identification of the key ions characteristic of different types of CDG affecting PMM2, ALG14, SLC35A1, SLC35A2, MAN1B1 and PGM1 in the m/z 1,970–2,000 region. Charge deconvolution was used as a complementary tool for validating the findings. It was necessary to set a cutoff level for the evaluation, since small peaks indicating glycosylation failure or reduced sialylation were observed, even in control subjects. This method and workflow facilitates the implementation of MS-based analyses and the screening of CDG in clinical laboratories.

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© 2022 Yoshinao Wada and Nobuhiko Okamoto. This is an open-access article distributed under the terms of Creative Commons Attribution Non-Commercial 4.0 International License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

This article is licensed under a Creative Commons [Attribution-NonCommercial 4.0 International] license.
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