Profiling the Biochemical Signature of GBA‐Related Parkinson's Disease in Peripheral Blood Mononuclear Cells. Issue 5 (22nd February 2021)

• Record Type: Journal Article
• Authors: Avenali, Micol; Cerri, Silvia; Ongari, Gerardo; Ghezzi, Cristina; Pacchetti, Claudio; Tassorelli, Cristina; Valente, Enza Maria; Blandini, Fabio
• Is Part Of: Movement disorders. Volume 36:Issue 5(2021)
• Page Start: 1267
• Page End: 1272
• Publication Date: 2021-02-22
• Subjects: α‐synuclein -- glucocerebrosidase -- Parkinson's disease -- exosomes -- phenotyping; Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.28496
• Languages: English
• ISSNs: 0885-3185

Abstract

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