Mass spectrometry for congenital disorders of glycosylation, CDG.

Abstract

Congenital disorders of glycosylation (CDG) constitute a group of diseases affecting N-linked glycosylation pathways. The classical type of CDG, now called CDG-I, results from deficiencies in the early glycosylation pathway for biosynthesis of lipid-linked oligosaccharide and its transfer to proteins in endoplasmic reticulum, while the CDG-II diseases are caused by defects in the subsequent processing steps. Mass spectrometry (MS) produced a milestone in CDG research, by localizing the CDG-I defect to the early glycosylation pathway in 1992. Currently, MS of transferrin, either by electrospray ionization or matrix-assisted laser desorption/ionization, plays the central role in laboratory screening of CDG-I. On the other hand, the glycopeptide analysis recently developed for site-specific glycans of glycoproteins allows detailed glycan analysis in a high throughput manner and will solve problems in CDG-II diagnosis. These techniques will facilitate studying CDG, a field now expanding to O-linked glycosylation and to acquired as well as inherited conditions that can affect protein glycosylation.

• Authors: Yoshinao Wada
• Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 838 Issue 1 Pg. 3-8 (Jun 21 2006) ISSN: 1570-0232 [Print] Netherlands
• PMID: 16517226 (Publication Type: Journal Article, Review)

Chemical References

• Glycoproteins
• Oligosaccharides
• Transferrin

Topics

• Carbohydrate Metabolism, Inborn Errors (classification, diagnosis, metabolism)
• Glycoproteins (analysis, metabolism)
• Glycosylation
• Humans
• Mass Spectrometry (methods)
• Models, Biological
• Oligosaccharides (metabolism)
• Spectrometry, Mass, Electrospray Ionization (methods)
• Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization (methods)
• Transferrin (analysis, metabolism)