Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I |
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Authors: | Callewaert Nico Schollen Els Vanhecke Annelies Jaeken Jaak Matthijs Gert Contreras Roland |
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Institution: | Department of Molecular Biomedical Research, Ghent University and Flanders Interuniversity Institute for Biotechnology, K.l.-ledeganckstraat 35, B-9000 Ghent, Belgium. |
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Abstract: | The N-glycans present on the total mixture of serum glycoproteins (serum N-glycome) were analyzed in 24 subjects with congenital disorder of glycosylation type I (CDG-I) and 7 healthy, age-matched individuals. No new N-glycan structures were observed in the sera of CDG-I patients as compared with normal sera. However, we observed in all subtypes a significantly increased degree of core alpha-1,6-fucosylation of the biantennary glycans as compared to normal, as well as a significant decrease in the amount of triantennary glycans. These serum N-glycome changes appear to be a milder manifestation of some of the changes observed in adult liver cirrhosis patients, which is compatible with the reported steatosis and fibrosis in CDG-I patients. In the CDG-Ia subgroup, the extent of the serum N-glycome changes correlates with the aberration of the serum transferrin isoelectric focusing pattern, which measures the severity of the lack of entire N-glycan chains (primary consequence of CDG-I) in the liver and is the standard diagnostic test for this category of inherited diseases. |
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Keywords: | congenital disorders of glycosylation / DNA sequencer / glycopathology / N-glycan structure |
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