MassIVE MSV000080786

Imported Reanalysis Dataset Public PXD001654

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease

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Description

Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-metastatic B (GPNMB), that acts as an authentic marker of brain pathology in neurological forms of Gaucher disease. Using three independent techniques, including quantitative global proteomic analysis of cerebrospinal fluid (CSF) in samples from Gaucher disease patients that display neurological symptoms, we demonstrate a correlation between the severity of symptoms and GPNMB levels. Moreover, GPNMB levels in the CSF correlate with disease severity in a mouse model of Gaucher disease. GPNMB was also elevated in brain samples from patients with type 2 and 3 Gaucher disease. Our data suggest that GPNMB can be used as a marker to quantify neuropathology in Gaucher disease patients and as a marker of treatment efficacy once suitable treatments towards the neurological symptoms of Gaucher disease become available. [dataset license: CC0 1.0 Universal (CC0 1.0)]

Keywords: CSF ; Proteomics ; Gaucher

Contact

Principal Investigators:
(in alphabetical order) 		Yishai Levin, The de Botton Institute for Protein Profiling, Nancy and Stephen Grand Israel National Center for Personalized Medicien, Weizmann Insitute of Science, N/A
Submitting User: ccms

Publications

Zigdon H, Savidor A, Levin Y, Meshcheriakova A, Schiffmann R, Futerman AH.
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease.
PLoS ONE. 2015;10(3):e0120194. Epub 2015 Mar 16.

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Distinct protein accessions are counted across all files submitted in the "Statistical Analysis of Quantified Analytes" category having a "Protein" column in this dataset.

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