Transcriptomic alterations in fibroblasts from Parkinson's disease patients carrying Parkin mutations

In this study, we evaluate the hypothesis that transcriptome pattern of a cell model of Parkinson’s disease (PD) could be altered compared to healthy individuals. We cultured fibroblasts from Parkin-associated PD (PRKN-PD; n=4) and healthy controls (HC; n=4) and analysed the transcriptome profile by using whole RNA sequencing. We found 343 differentially expressed transcripts (DET) between patients and controls being 206 up-regulated and 137 down-regulated. These genes are related with the gene ontology terms cell adhesion, cell growth, aminoacid biosynthesis and folate metabolism amongst others. Our findings indicate that PRKN mutations are associated with global gene expression changes as observed in fibroblasts, and support an emerging view of PD as a systemic disease affecting also peripheral non-neural tissues such as the skin. Evaluation of transcript expression by RNA sequencing of fibroblasts from Parkin-associated Parkinson's Disease patients versus fibroblasts from healthy controls