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Published on: June 3, 2020
Transcriptomic differences in MSA clinical variants
Alexandra Pérez-Soriano1,2,3, Magdalena Arnal Segura3,4, Teresa Botta-Orfila3,5
1Parkinson's Disease & Movement Disorders Unit, Hospital Clínic/IDIBAPS/CIBERNED/European Reference Network for Rare Neurological Diseases (ERN-RND)/Institut de Neurociències, University of Barcelona, Catalonia, Spain.
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.
