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Blood Cells Mol Dis. 2018 Feb;68:47-53. doi: 10.1016/j.bcmd.2016.12.002. Epub 2016 Dec 13.

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.

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Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, United States.
Department of Biostatistics, Yale School of Public Health, United States.
Department of Radiology, Yale University School of Medicine, New Haven, CT, United States.
Department of Metabolic Diseases, Mater Misericordiae University Hospital, Dublin, Ireland.
Sanofi Genzyme, Framingham, MA, United States.
Department of Internal Medicine & Pediatrics, Yale University School of Medicine, New Haven, CT, United States. Electronic address:


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 >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.


Biomarker; Gaucher disease; Osteoactivin; gpNMB

[Available on 2019-02-01]
[Indexed for MEDLINE]

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