Identification of hsa_circ_0018905 as a New Potential Biomarker for Multiple Sclerosis

• Published in: Cells (Basel, Switzerland) Switzerland), 2024-10, Vol.13 (19), p.1668
• Main Authors: Lodde, Valeria, Zarbo, Ignazio Roberto, Farina, Gabriele, Masia, Aurora, Solla, Paolo, Campesi, Ilaria, Delogu, Giuseppe, Muroni, Maria Rosaria, Tsitsipatis, Dimitrios, Gorospe, Myriam, Floris, Matteo, Idda, Maria Laura
• Format: Article
• Language: English
• Subjects: Adult; Autoimmune diseases; B cells; Biomarkers; Biomarkers - metabolism; Case-Control Studies; Cell cycle; Circular RNA; circular RNAs; Demyelination; Development and progression; Disease; DNA microarrays; Down-regulation; Environmental factors; Epigenetics; Female; Gene Expression Profiling; Gene Expression Regulation; Genes; Health savings accounts; Humans; Hybridization; immune regulation; Immune system; Labeling; Leukocytes, Mononuclear - metabolism; Male; MicroRNAs; Middle Aged; Multiple sclerosis; Multiple Sclerosis - genetics; Multiple Sclerosis - pathology; Neurophysiology; new diagnosis; Pathogenesis; RNA, Circular - genetics; RNA, Circular - metabolism; Software
• ISSN: 2073-4409; 2073-4409
• DOI: 10.3390/cells13191668

Multiple sclerosis (MS) is a demyelinating autoimmune disease characterized by early onset, for which the interaction of genetic and environmental factors is crucial. Dysregulation of the immune system as well as myelinization-de-myelinization has been shown to correlate with changes in RNA, including non-coding RNAs. Recently, circular RNAs (circRNAs) have emerged as a key player in the complex network of gene dysregulation associated with MS. Despite several efforts, the mechanisms driving circRNA regulation and dysregulation in MS still need to be properly elucidated. Here, we explore the panorama of circRNA expression in PBMCs purified from five newly diagnosed MS patients and five healthy controls (HCs) using the Arraystar Human circRNAs microarray. Experimental validation was then carried out in a validation cohort, and a possible correlation with disease severity was tested. We identified 64 differentially expressed circRNAs, 53 of which were downregulated in PBMCs purified from MS compared to the HCs. The discovery dataset was subsequently validated using qRT-PCR with an independent cohort of 20 RRMS patients and 20 HCs. We validated seven circRNAs differentially expressed in the RRMS group versus the HC group. , , , and were significantly upregulated in the MS group, while , , and were significantly downregulated; Among them, the expression level of was significantly decreased in patients showing a higher level of disability and in progressive forms of MS. We described the circRNAs expression profile of PBMCs in newly diagnosed MS patients and proposed as potential MS biomarker.