Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

A biomarker is an analyte that indicates the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing determinations of disease activity. In the case of lysosomal storage disorders (LSDs), metabolites...

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Bibliographic Details
Published in:	Acta Paediatrica Vol. 97; no. s457; pp. 7 - 14
Main Authors:	Aerts, Johannes M, Van Breemen, Marielle J, Bussink, Anton P, Ghauharali, Karen, Sprenger, Richard, Boot, Rolf G, Groener, Johanna E, Hollak, Carla E, Maas, Mario, Smit, Suzanne, Hoefsloot, Huub C, Smilde, Age K, Vissers, Johannes PC, De Jong, Sheryas, Speijer, Dave, De Koster, Chris G
Format:	Journal Article Conference Proceeding
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-04-2008 Blackwell
Subjects:	beta-Glucosidase - physiology Biological and medical sciences Biomarker Biomarkers - blood Chitotriosidase Errors of metabolism Gaucher disease Gaucher Disease - diagnosis General aspects Hexosaminidases - blood Humans Lipids (lysosomal enzyme disorders, storage diseases) Lysosomal Storage Diseases - diagnosis Lysosomal storage disorder Macrophages - physiology Mass spectrometry Medical sciences Metabolic diseases Proteomics Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Pediatrics Nervous system diseases Biomarker Lysosomal storage disorder Biological marker Exploration Metabolic diseases Lipids Identification Lysosomal storage disease Enzymopathy Genetic disease Cerebral disorder Gaucher disease Central nervous system disease Chitotriosidase Lipoidosis Application Mass spectrometry
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Summary:	A biomarker is an analyte that indicates the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing determinations of disease activity. In the case of lysosomal storage disorders (LSDs), metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Potential clinical applications of biomarkers are found in improved diagnosis, monitoring of disease progression and assessment of therapeutic correction. These applications are illustrated by reviewing the use of plasma chitotriosidase in the clinical management of patients with Gaucher disease, the most common LSD. The ongoing debate on the value of biomarkers in patient management is addressed. Novel analytical methods have revolutionized the identification and measurement of biomarkers at the protein and metabolite level. Recent developments in biomarker discovery by proteomics are described and the future for biomarkers of LSDs is discussed. Conclusion: Besides direct applications for biomarkers in patient management, biomarker searches are likely to render new insights into pathophysiological mechanisms and metabolic adaptations, and may provide new targets for therapeutic intervention.
Bibliography:	istex:BE6E514A5FEF89D4C1D007C986AB291E6D38D761 ark:/67375/WNG-TGKDV0VH-0 ArticleID:APA641 JM Aerts and MJ van Breemen contributed equally to this publication. ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	0803-5253 1651-2227
DOI:	10.1111/j.1651-2227.2007.00641.x