We are pleased to announce that a successful collaboration between glyXera and Hannover Medical School and Praxis für Humangenetik Tübingen resulted in publishing an article in Glycobiology with the title “Serum N-glycomics of a novel CDG-IIb patient aberrant IgG glycosylation”.
Congenital disorders of glycosylation (CDG) refer to a heterogeneous group of diseases caused by inborn defects in various steps along N- and O-glycosylation pathways. Because the symptoms caused by CDGs are rather unspecific, the clinical diagnosis of this disease group is difficult. Often, genome sequencing by next-generation sequencing technologies is required to detect genetic defects of glycosylation-linked enzymes for diagnosis.
The published study reports a female patient bearing a CDG manifested by mutations of the gene. This defect results in a decreased activity of the enzyme glucosidase I, causing a systemic change of the N-glycosylation. A straightforward xCGE-LIF assisted glycoprofiling analysis revealed an aberrant N-glycosylation, which is exclusively present in the patient, but not in healthy relatives. The aberrant N-glycan precursors Glc3Man7-9GlcNAc2 could be found inside the patient’s blood serum and on serum derived proteins like IgG. Furthermore, the accumulation of the free tetrasaccharide Glc(α1-2)Glc(α1-3)Glc(α1-3)Man could be observed in the patient´s blood. This tetrasaccharide is the product of an alternative bypass of the glucosidase I dependent N-glycan processing via endo-α-1,2-mannosidase. Detection of the tetrasaccharide using xCGE-LIF might in the future serve as a biomarker as part of patient screening during diagnostic work-up.
For more information about this article, please visit the publication web page: https://academic.oup.com/glycob/article-abstract/32/5/380/6523740
If you would like to learn more about glyXera’s high-performance xCGE-LIF technology and its applications in the characterization of highly complex glycan mixtures or its use in biomarker discovery, please feel free to get in touch.