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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/186868
Transcriptomic differences in MSA clinical variants
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Background: Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C). Objective: To identify novel disease mechanisms we performed a blood transcriptomic study investigating differential gene expression changes and biological process alterations in MSA and its clinical subtypes. Methods: We compared the transcriptome from rigorously gender and age-balanced groups of 10 probable MSA-P, 10 probable MSA-C cases, 10 controls from the Catalan MSA Registry (CMSAR), and 10 Parkinson Disease (PD) patients. Results: Gene set enrichment analyses showed prominent positive enrichment in processes related to immunity and inflammation in all groups, and a negative enrichment in cell differentiation and development of the nervous system in both MSA-P and PD, in contrast to protein translation and processing in MSA-C. Gene set enrichment analysis using expression patterns in different brain regions as a reference also showed distinct results between the different synucleinopathies. Conclusions: In line with the two major phenotypes described in the clinic, our data suggest that gene expression and biological processes might be differentially affected in MSA-P and MSA-C. Future studies using larger sample sizes are warranted to confirm these results.
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PÉREZ SORIANO, Alexandra, ARNAL, Magdalena, BOTTA ORFILA, Teresa, GIRALDO, Darly m., FERNÁNDEZ, Manel, COMPTA, Yaroslau, FERNÁNDEZ SANTIAGO, Rubén, EZQUERRA TRABALÓN, Mario, TARTAGLIA, Gian gaetano, MARTÍ, M j, MUÑOZ GARCÍA, José esteban. Transcriptomic differences in MSA clinical variants. _Scientific Reports_. 2020. Vol. 10, núm. 1, pàgs. 10310. [consulta: 20 de gener de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/186868]