Please use this identifier to cite or link to this item:
https://hdl.handle.net/2445/186868
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 Cerebellum 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: https://doi.org/10.1038/s41598-020-66221-4 |
It is part of: | Scientific Reports, 2020, vol. 10, num. 1, p. 10310 |
URI: | https://hdl.handle.net/2445/186868 |
Related resource: | https://doi.org/10.1038/s41598-020-66221-4 |
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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