title: Osteopontin: a potential biomarker of Gaucher disease.
abstract: Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and the disorder that has the greatest immune system involvement. Pathologic lipid accumulation in macrophages accounts for a small amount of the additional tissue mass in the liver and spleen. The additional increase may be related to an inflammatory response because Gaucher cells secrete inflammatory mediators. Osteopontin (OPN) is a protein identified in cancer cells and in bone cells that is produced by several types of immune cells including T-cells and macrophages. We report here elevated OPN levels in the plasma of type 1 GD patients and its sensitive response to enzyme replacement therapy. The mean OPN value of GD patients receiving ERT was similar to the values of controls and patients with other lysosomal disorders. When comparing untreated and treated GD patients, the p value was <0.001. In GD, OPN appears to be more sensitive to ERT than chitotriosidase and can be used during the follow-up of patients who are chitotriosidase deficient. Additional extended studies are required to relate variations in the OPN levels to clinical findings and response to therapy in GD patients.
authors: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil, fvairo@hcpa.ufrgs.br.
authors: Filippo
authors: F
authors: Vairo
authors: Fernanda
authors: F
authors: Sperb-Ludwig
authors: Matheus
authors: M
authors: Wilke
authors: Kristiane
authors: K
authors: Michellin-Tirelli
authors: Cristina
authors: C
authors: Netto
authors: Eurico Camargo
authors: EC
authors: Neto
authors: Ida
authors: I
authors: Schwartz
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D002648:Child; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000097:blood* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008297:Male; D053495:Osteopontin / Q000097:blood*; D011247:Pregnancy
chemical_list: D015415:Biomarkers; D053495:Osteopontin