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dc.contributor.authorPérez Soriano, Alexandra-
dc.contributor.authorArnal, Magdalena-
dc.contributor.authorBotta Orfila, Teresa-
dc.contributor.authorGiraldo, Darly M.-
dc.contributor.authorFernández, Manel-
dc.contributor.authorCompta, Yaroslau-
dc.contributor.authorFernández Santiago, Rubén-
dc.contributor.authorEzquerra, Mario-
dc.contributor.authorTartaglia, Gian Gaetano-
dc.contributor.authorMartí, M J-
dc.contributor.authorMuñoz García, José Esteban-
dc.description.abstractBackground: 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.-
dc.format.extent9 p.-
dc.publisherNature Publishing Group-
dc.relation.isformatofReproducció del document publicat a:
dc.relation.ispartofScientific Reports, 2020, vol. 10, num. 1, p. 10310-
dc.rightscc-by (c) Pérez Soriano, Alexandra et al., 2020-
dc.subject.classificationMalaltia de Parkinson-
dc.subject.classificationDiagnòstic diferencial-
dc.subject.classificationExpressió gènica-
dc.subject.otherParkinson's disease-
dc.subject.otherDifferential diagnosis-
dc.subject.otherGene expression-
dc.titleTranscriptomic differences in MSA clinical variants-
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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