Objective: In this study, we aimed to 1) perform miRNA profiling in CSF and subsequent 2) validate biomarker potential of differentially expressed miRs in (different) CSF and EDTA-plasma in PD (Parkinson’s disease), MSA (Multiple System Atrophy) and PSP (Progressive Supranuclear Palsy) patients compared to control subjects.

Background: Differentiation among Parkinsonian syndromes is challenging, diagnosis entirely clinical and development of a reliable biomarker yet unmet. Circulating microRNAs (miRNAs) represent a potential non-invasive, measurable and disease-specific biomarker. MiRNA are small, non-coding RNAs involved in post-transcriptional regulation of protein synthesis and evidence suggest miR-7-5p and -153 to regulate the synthesis of alpha-synuclein.

Methods: All samples, obtained from Bispebjerg Movement Disorders Biobank, was collected in PP-tubes, centrifuged, aliquoted and stored at -80°C. Small RNA was isolated from 250 µl CSF and 200 µl EDTA-plasma. MiRNA profiling (n=40) performed using Exiqon® miRCURY PCR-panel I, investigating 372 human miRNAs, including miR-7-5p and miR-153. Validation in CSF and EDTA-plasma (n=115) of 46 selected miRs, from the CSF-profiling and review of the literature, is ongoing.

Results: MiRNA profiling was successful, although, hsa-miR-7-5p and hsa-miR-153 not detected in CSF. PCA-plot suggests a grouping of MSA patients. In between groups 26 miRs were found differentially expressed (p<0.05, fold change >1.5) and eligible for further validation. Among these, the top five (most significant) differentially expressed miRs between MSA and PD; hsa-miR-99-3p, hsa-miR-338-3p, hsa-miR-9-3p, hsa-miR-142-3p and hsa-miR-106-5p.

Conclusions: MiRNA profiling is possible in CSF, despite low miRNA concentrations, and several miRNAs found differentially expressed and eligible for further validation.

German-Scandinavian Meeting on Movement Disorders, October, 2015.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/microrna-as-diagnostic-biomarkers-in-parkinsons-disease-and-multiple-system-atrophy/