Glycomics of pediatric and adulthood diseases of the central nervous system

Glycosylation consists in the covalent linkage of a carbohydrate structure to membranebound and secreted glycoconjugates. It is a common post-translational modification thatserves multiple functions in cell differentiation, signaling and intercellular communication.Unlike DNA/RNA/protein, the addition of complex carbohydrates is not-template drivenand it is conceivable that both genetics and environmental factors might interact toinfluence glycosylation machinery in several pathological processes.Over the last few decades, the recognition of Congenital Disorders of Glycosylation (CDG) asan increasing number of genetic diseases of glycosylation with almost constant nervoussystem involvement, dramatically illustrated the consequences of abnormal glycosylationas improper CNS development and function. In addition, CDG recognition contributed topostulate that aberrant glycosylation processes might play a role in multifactorial, complexCNS diseases. On this context, CNS glycomics explores the effects of possible aberrantglycosylation to identify potential glyco-biomarkers useful for the diagnosis and ultimatelyfor potential intervention strategies in neurological diseases.Up to date, CNS glycomics is an emerging, still uncharted area because of the specificity ofCNS glycosylation, the complexity of the neurological disorders and for the inaccessibility andinvasiveness of disease relevant samples. Here we review current knowledge on clinicalglycomics of nervous system diseases, starting with CDG to include those pediatric andadulthood neuropsychiatric diseases where some evidences suggest that multifactordeterminants converge to dysregulate glycosylation. Conventional and mass spectrometrybasedhigh throughput technology for glyco-biomarker detection in CNS diseases is reported.© 2012 Elsevier B.V. All rights reserved.