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Title: Transcriptomic differences in MSA clinical variants
Author: Pérez Soriano, Alexandra
Arnal, Magdalena
Botta Orfila, Teresa
Giraldo, Darly M.
Fernández, Manel
Compta, Yaroslau
Fernández Santiago, Rubén
Ezquerra, Mario
Tartaglia, Gian Gaetano
Martí, M J
Muñoz García, José Esteban
Keywords: Cerebel
Malaltia de Parkinson
Diagnòstic diferencial
Expressió gènica
Parkinson's disease
Differential diagnosis
Gene expression
Issue Date: 25-Jun-2020
Publisher: Nature Publishing Group
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Scientific Reports, 2020, vol. 10, num. 1, p. 10310
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ISSN: 2045-2322
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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