Dataset Information

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

ABSTRACT: 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.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Yishai Levin

PROVIDER: MSV000080786 | MassIVE | Wed Mar 29 14:39:00 BST 2017

SECONDARY ACCESSION(S): PXD001654

REPOSITORIES: MassIVE

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

Zigdon Hila H Savidor Alon A Levin Yishai Y Meshcheriakova Anna A Schiffmann Raphael R Futerman Anthony H AH

PloS one 20150316 3

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 ...[more]

PMID: 25775479

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