Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome

Autor:	Helen Heussler, Francis Bowling, T. B. Munce
Rok vydání:	2010
Předmět:	congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Glycosylation Apolipoprotein B Abnormal glycosylation chemistry.chemical_compound Arts and Humanities (miscellaneous) Internal medicine Intellectual disability Genotype medicine chemistry.chemical_classification biology Rehabilitation nutritional and metabolic diseases medicine.disease Phenotype nervous system diseases Psychiatry and Mental health Endocrinology Neurology chemistry biology.protein lipids (amino acids peptides and proteins) Neurology (clinical) Abnormality Psychology Glycoprotein
Zdroj:	Journal of Intellectual Disability Research. 54:929-937
ISSN:	0964-2633
DOI:	10.1111/j.1365-2788.2010.01323.x
Popis:	Background: Current genotype-phenotype correlations in Prader-Willi syndrome (PWS) are struggling to give an explanation of the diversity in phenotype and there is a need to move towards a molecular understanding of PWS. A range of functions related to glycoproteins are involved in the pathophysiology of PWS and it may be that abnormal glycosylation is contributing to the biological phenotype. The objective of this study was to investigate the state of N- and O-linked glycosylation in children with Prader-Willi syndrome. Methods: Twenty-three children with PWS and 20 non-PWS controls were included in the study. Protein N-linked glycosylation was assessed by analysing serum transferrin through mass spectrometry and protein O-linked through isoelectric focusing (IEF) of serum apolipoprotein C-III (apoC-III), confirmed by mass spectrometry. Results: The results of this analysis indicated that the N-linked glycosylation pathway in PWS is normal. A subgroup of PWS individuals was found to have a hyposialylated pattern of apoC-III isoforms. This was independent of the underlying genetic mechanism and is the first report of an apoC-III IEF abnormality in PWS. Conclusions: This is the first report of apoC-III hyposialylation in PWS. As this field is in its infancy, additional study is required before these findings may be used in clinical settings. © 2010 The Authors. Journal of Intellectual Disability Research
Databáze:	OpenAIRE
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