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ABSTRACT: Background
GBA mutations are the commonest genetic risk factor for Parkinson's disease (PD) and also impact disease progression.Objective
The objective of this study was to define a biochemical profile that could distinguish GBA-PD from non-mutated PD.Methods
29 GBA-PD, 37 non-mutated PD, and 40 controls were recruited; α-synuclein levels in plasma, exosomes, and peripheral blood mononuclear cells were analyzed, GCase and main GCase-related lysosomal proteins in peripheral blood mononuclear cells were measured.Results
Assessment of plasma and exosomal α-synuclein levels did not allow differentiation between GBA-PD and non-mutated PD; conversely, measurements in peripheral blood mononuclear cells clearly distinguished GBA-PD from non-mutated PD, with the former group showing significantly higher α-synuclein levels, lower GCase activity, higher LIMP-2, and lower Saposin C levels.Conclusion
We propose peripheral blood mononuclear cells as an easily accessible and manageable model to provide a distinctive biochemical profile of GBA-PD, potentially useful for patient stratification or selection in clinical trials. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
SUBMITTER: Avenali M
PROVIDER: S-EPMC8247888 | biostudies-literature |
REPOSITORIES: biostudies-literature