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Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients

Multiple system atrophy (MSA) is a rare disease with a fatal outcome. To date, little is known about the molecular processes underlying disease development. Its clinical overlap with related neurodegenerative movement disorders underlines the importance for expanding the knowledge of pathological br...

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Published in:Acta neuropathologica communications 2020-03, Vol.8 (1), p.29-29, Article 29
Main Authors: Rydbirk, Rasmus, Folke, Jonas, Busato, Florence, Roché, Elodie, Chauhan, Alisha Shahzad, Løkkegaard, Annemette, Hejl, Anne-Mette, Bode, Matthias, Blaabjerg, Morten, Møller, Mette, Danielsen, Erik Hvid, Brudek, Tomasz, Pakkenberg, Bente, Tost, Jorg, Aznar, Susana
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Language:English
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Summary:Multiple system atrophy (MSA) is a rare disease with a fatal outcome. To date, little is known about the molecular processes underlying disease development. Its clinical overlap with related neurodegenerative movement disorders underlines the importance for expanding the knowledge of pathological brain processes in MSA patients to improve distinction from similar diseases. In the current study, we investigated DNA methylation changes in brain samples from 41 MSA patients and 37 healthy controls. We focused on the prefrontal cortex, a moderately affected area in MSA. Using Illumina MethylationEPIC arrays, we investigated 5-methylcytosine (5mC) as well as 5-hydroxymethylcytosine (5hmC) changes throughout the genome. We identified five significantly different 5mC probes (adj. P 
ISSN:2051-5960
2051-5960
DOI:10.1186/s40478-020-00908-7