Journal
BLOOD CELLS MOLECULES AND DISEASES
Volume 68, Issue -, Pages 47-53Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bcmd.2016.12.002
Keywords
gpNMB; Osteoactivin; Biomarker; Gaucher disease
Categories
Funding
- National Institutes of Arthritis, Musculoskeletal and Skin Diseases [AR 65932]
- Center of Excellence Grant in Clinical Translational Research from Genzyme, a Sanofi Company
- Genzyme
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In the spleens of Gaucher disease mice and patients, there is a striking elevation of expression of glycoprotein non-Metastatic Melanoma B (gpNMB). We conducted a study in a large cohort of patients with Gaucher disease to assess the utility of serum levels of soluble fragment of gpNMB as a biomarker of disease activity. There was N 15-fold elevation of gpNMB in sera of untreated patients with Gaucher disease. gpNMB levels correlated with overall disease severity as well as the severity of individual organ compartments: liver, spleen, bone and hematological disease. Imiglucerase enzyme replacement therapy resulted in significant reduction of gpNMB. Serum levels of gpNMB were highly correlated with accumulation of bioactive lipid substrate of Gaucher disease, glucosylsphingosine as well as established biomarkers, chitotriosidase and chemokine, CCL18. Our results suggest utility of gpNMB as a biomarker of Gaucher disease to monitor individual patients and cohorts of patients for disease progression or response to therapy. Investigation of gpNMB in Gaucher disease pathophysiology is likely to illuminate our understanding disease mechanisms. (C) 2016 Elsevier Inc. All rights reserved.
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