Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells

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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 International Parkinson and Movement Disorder Society.

Original languageEnglish
JournalMovement Disorders
DOIs
Publication statusE-pub ahead of print - Feb 22 2021

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