Category: Parkinsonism, Atypical: MSA
Objective: This study aimed to uncover circRNAs subsets with diagnostic potential for APS and iPD.
Background: Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) are atypical parkinsonian syndromes (APS) with significant clinical overlap with idiopathic Parkinson’s disease (iPD). Given their clinical diagnosis, biomarkers for early identification and separation of these distinct forms of parkinsonism are of great interest. Circular RNAs (circRNAs) are a distinctive class of regulatory non-coding RNAs and, due to their high stability, could be used as suitable biomarkers for diagnosis and disease progression.
Method: Initial selection of 48 brain-enriched circRNAs was based on the relativelyhigh abundance in human brains and satisfactory detectionin PBMCs. RT-qPCR was performed on RNA extracted from PBMCs from 25 MSA (12MSA-C, 13MSA-P), 11 PSP, 35 iPD patients, and 35 healthy controls (HC).
Results: Seven circ RNAs were differentially expressed across the four groups. Thedistribution of circSCLT1,circANKRD12, and circATP6V0A1differedbetweenHC and PSP groups(adjusted p-values 0.0107, 0.0127, and 0.0215, respectively). ThedistributionofcircMAPK9 and circSLC8A1differed between the groups iPD and MSA(adjusted p-values 0.0406 and 0.0008, respectively) and between iPD and PSP (adjusted p-values 0.0038 and 0.001, respectively). The distribution of circAFF2 differed between the groups iPD and MSA (adjusted p-value=0.0155), while the distribution of circMGA differed between iPD and HC, MSA, and PSP groups (adjusted p-values 0.043, 0.0305, and 0.0325, respectively).
Conclusion: Our findings support the use of circRNAs as non-invasive diagnostic biomarkers for atypical parkinsonian diseases and,sincetheparticularcircRNAs are highly expressed in the brain, suggest that they may relate to pathophysiological processes involved in iPD and APS.
To cite this abstract in AMA style:
S. Ravanidis, A. Bougea, A. Simistiras, M. Maniati, C. Koros, A. Simitsi, L. Stefanis, E. Doxakis. Expression profile of circRNA in peripheral blood mononuclear cells of patients with Parkinson’s disease and atypical parkinsonian syndromes [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/expression-profile-of-circrna-in-peripheral-blood-mononuclear-cells-of-patients-with-parkinsons-disease-and-atypical-parkinsonian-syndromes/. Accessed June 15, 2025.« Back to 2023 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/expression-profile-of-circrna-in-peripheral-blood-mononuclear-cells-of-patients-with-parkinsons-disease-and-atypical-parkinsonian-syndromes/