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

Johannes M Aerts, Marielle J van Breemen, Anton P Bussink, Karen Ghauharali, Richard Sprenger, Rolf G Boot, Johanna E Groener, Carla E Hollak, Mario Maas, Suzanne Smit, Huub C Hoefsloot, Age K Smilde, Johannes Pc Vissers, Sheryas de Jong, Dave Speijer, Chris G de Koster

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

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.
Original languageEnglish
JournalActa Paediatrica
Volume97
Issue numbers457
Pages (from-to)7-14
Number of pages7
ISSN0803-5253
DOIs
Publication statusPublished - 1. Apr 2008
Externally publishedYes

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