Objective: Identification of a blood biomarker to predict PD diagnosis or to monitor the disease progression.

Background: Previous evidence suggests differences in systemic alpha-synuclein levels in glucocerebrosidase (GBA) mutation carriers with Parkinson’s disease (PD) could exist. However, such targets have not been reported as potential biomarker of diagnosis or to follow the disease progression on any of its features. Since platelets are known to be rich in synuclein and with functional lysosomes, we decided to screen the levels of GBA and synuclein in platelets isolated from a patients-cohort to understand whether any relationships between healthy control and PD patients, both idiopathic and GBA mutant, is present.

Method: We are recruiting and sustaining a patient cohort with five health statuses: GBA mutation carriers without PD; idiopathic PD; GBA-PD; Gaucher disease (GD) without PD; and healthy controls. Alpha-synuclein levels in platelets (Pt A-syn) by ELISA screening were quantified by bioinformatic analysis using STATA software.

Results: A preliminary univariate analysis of 180 patients (48 HC, 77 iPD, 20 GBA-carriers, 32 GBA-PD and 3 GD) showed no variable was statistically associated with Pt A-syn. 

Univariate analysis to predict health status exhibited expected statistical association among several clinical scales (MDS-UPDRS_II, III, Hoen&Yahr, HADS_Anxiety and Depression, RBDSQ, BDI-I) with iPD and GBA-PD. Additionally, MDS-UPDRS I was associated with iPD, GBA-PD and GBA carriers. SCOPA_AUT showed association with iPD, GBA-PD, and  GD. Subsequently, a multivariate analysis to assess whether Pt A-syn was associated with health status adjusted by sex, age, cognitive status and Pt_Gcase found a significant statistical association (p=0.01). We explored the association of Pt A-syn in the group of PD patients (iPD and GBA-PD) with motor severity by MDS-UPDRS III. The analysis revealed a significant association of MDS-UPDRS III with Pt A-syn (p=0.01) when corrected by sex, age, cognitive status, health status, disease duration and levodopa equivalent daily dose. Interestingly, female gender (p=0.03), age (p=0.04), dementia status (p=0.001) and Pt_GCase (p=0.03) were also associated with MDS-UPDRS III.

Conclusion: These results show a promising role of Pt A-syn as an easy-access biochemical parameter to evaluate health status and PD severity. Further studies are warranted to assess Pt A-syn role in GBA-PD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/potential-role-of-alpha-synuclein-levels-in-platelets-in-gba-related-pd/