Detection of a Parkinson's Disease–Specific MicroRNA Signature in Nasal and Oral Swabs

Abstract

BackgroundBiomaterials from oral and nasal swabs provide, in theory, a potential resource for biomarker development. However, their diagnostic value has not yet been investigated in the context of Parkinson's disease (PD) and associated conditions.ObjectiveWe have previously identified a PD‐specific microRNA (miRNA) signature in gut biopsies. In this work, we aimed to investigate the expression of miRNAs in routine buccal (oral) and nasal swabs obtained from cases with idiopathic PD and isolated rapid eye movement sleep behavior disorder (iRBD), a prodromal symptom that often precedes α‐synucleinopathies. We aimed to address their value as a diagnostic biomarker for PD and their mechanistic contribution to PD onset and progression.MethodsHealthy control cases (n = 28), cases with PD (n = 29), and cases with iRBD (n = 8) were prospectively recruited to undergo routine buccal and nasal swabs. Total RNA was extracted from the swab material, and the expression of a predefined set of miRNAs was quantified by quantitative real‐time polymerase chain reaction.ResultsStatistical analysis revealed a significantly increased expression of hsa‐miR‐1260a in cases who had PD. Interestingly, hsa‐miR‐1260a expression levels correlated with diseases severity, as well as olfactory function, in the PD and iRBD cohorts. Mechanistically, hsa‐miR‐1260a segregated to Golgi‐associated cellular processes with a potential role in mucosal plasma cells. Predicted hsa‐miR‐1260a target gene expression was reduced in iRBD and PD groups.ConclusionsOur work demonstrates oral and nasal swabs as a valuable biomarker pool in PD and associated neurodegenerative conditions. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Biomarkers of Parkinson's disease in perspective of early diagnosis and translation of neurotrophic therapies

“…Peripheral tissue miRNAs may be of significance as hsa-miR-1260a from PD patients nasal and buccal swabs was significantly increased as compared with healthy controls [38]. Interestingly, non-coding miRNAs, miR-134 and miR-141 downregulated CDNF levels in an experimental setting calling for clinical studies on the biomarker properties of these miRNAs [34].…”

An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease

“…Among the best-studied epigenetic mechanisms, microRNAs (miRNAs) are a group of small non-coding RNA molecules ( ∼ 22 nucleotides in length) that regulate gene expression at post-transcriptional level by binding specific mRNA targets. Many studies have demonstrated that miRNAs are critically involved in important biological processes in healthy and diseased conditions, including cancer, Alzheimer's disease, cardiovascular diseases, viral infections and diabetes [24][25][26][27][28][29]. Dysregulated expression of specific miRNAs can contribute to disease progression by affecting critical signaling pathways and gene networks.…”