title: Gaucher disease: a model disorder for biomarker discovery.
abstract: Gaucher disease is an inherited lysosomal storage disorder, characterized by massive accumulation of glucosylceramide-laden macrophages in the spleen, liver and bone marrow as a consequence of deficient activity of glucocerebrosidase. Gaucher disease has been the playground to develop new therapeutic interventions such as enzyme-replacement therapy and substrate-reduction therapy. The availability of these costly therapies has stimulated research regarding suitable biomarkers to monitor onset and progression of disease, as well as the efficacy of therapeutic intervention. Given the important role of storage cells in the pathology, various attempts have been made to identify proteins in plasma or serum reflecting the body burden of these pathological cells. In this review, the existing data regarding biomarkers for Gaucher disease, as well as the current application of biomarkers in clinical management of Gaucher patients are discussed. Moreover, the use of several modern proteomic technologies for the identification of Gaucher biomarkers is reviewed.
authors.affiliation: Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands. r.g.boot@amc.uva.nl
authors.forename: Rolf G
authors.initials: RG
authors.lastname: Boot
authors.forename: Mariëlle J
authors.initials: MJ
authors.lastname: van Breemen
authors.forename: Wouter
authors.initials: W
authors.lastname: Wegdam
authors.forename: Richard R
authors.initials: RR
authors.lastname: Sprenger
authors.forename: Shreyas
authors.initials: S
authors.lastname: de Jong
authors.forename: Dave
authors.initials: D
authors.lastname: Speijer
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Laura
authors.initials: L
authors.lastname: van Dussen
authors.forename: Huub C J
authors.initials: HC
authors.lastname: Hoefsloot
authors.forename: Age K
authors.initials: AK
authors.lastname: Smilde
authors.forename: Chris G
authors.initials: CG
authors.lastname: de Koster
authors.forename: Johannes P C
authors.initials: JP
authors.lastname: Vissers
authors.forename: Johannes M F G
authors.initials: JM
authors.lastname: Aerts
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000097:blood / Q000378:metabolism*; D005776:Gaucher Disease / Q000097:blood / Q000378:metabolism*; D006801:Humans; D040901:Proteomics
chemical_list: D015415:Biomarkers