title: Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Clinical Proteomics Facility, Academic Medical Center, Amsterdam, The Netherlands. j.m.aerts@amc.uva.nl
authors.forename: Johannes M
authors.initials: JM
authors.lastname: Aerts
authors.forename: Marielle J
authors.initials: MJ
authors.lastname: van Breemen
authors.forename: Anton P
authors.initials: AP
authors.lastname: Bussink
authors.forename: Karen
authors.initials: K
authors.lastname: Ghauharali
authors.forename: Richard
authors.initials: R
authors.lastname: Sprenger
authors.forename: Rolf G
authors.initials: RG
authors.lastname: Boot
authors.forename: Johanna E
authors.initials: JE
authors.lastname: Groener
authors.forename: Carla E
authors.initials: CE
authors.lastname: Hollak
authors.forename: Mario
authors.initials: M
authors.lastname: Maas
authors.forename: Suzanne
authors.initials: S
authors.lastname: Smit
authors.forename: Huub C
authors.initials: HC
authors.lastname: Hoefsloot
authors.forename: Age K
authors.initials: AK
authors.lastname: Smilde
authors.forename: Johannes Pc
authors.initials: JP
authors.lastname: Vissers
authors.forename: Sheryas
authors.initials: S
authors.lastname: de Jong
authors.forename: Dave
authors.initials: D
authors.lastname: Speijer
authors.forename: Chris G
authors.initials: CG
authors.lastname: de Koster
mesh_terms: D015415:Biomarkers / Q000097:blood; D005776:Gaucher Disease / Q000175:diagnosis*; D005962:Glucosylceramidase; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D008264:Macrophages / Q000502:physiology; D040901:Proteomics; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D001617:beta-Glucosidase / Q000502:physiology
chemical_list: D015415:Biomarkers; D006596:Hexosaminidases; C086400:chitotriosidase; D001617:beta-Glucosidase; C517537:GBA2 protein, human; D005962:Glucosylceramidase