Epigenetic study in parkinson’s disease: a pilot analysis of DNA methylation in candidate genes in brain

Efforts have been made to understand the pathophysiology of Parkinson’s disease (PD). A significant number of studies have focused on genetics, despite the fact that the described pathogenic mutations have been observed only in around 10% of patients; this observation supports the fact that PD is a multifactorial disorder. Lately, differences in miRNA expression, histone modification, and DNA methylation levels have been described, highlighting the importance of epigenetic factors in PD etiology. Taking all this into consideration, we hypothesized that an alteration in the level of methylation in PD-related genes could be related to disease pathogenesis, possibly due to alterations in gene expression. After analysing promoter regions of five PD-related genes in three brain regions by pyrosequencing, we observed some differences in DNA methylation levels (hypo and hypermethylation) in substantia nigra in some CpG dinucleotides that, possibly through an alteration in Sp1 binding, could alter their expression.This research was funded by Ministerio de Ciencia, Innovación y, Universidades, grant number SAF2015-59469-R, and by Centro de Investigación Biomédica en Red de Enfermades Neurodegenerativas to J.P.-T. L.N.-S. was a recipient of a JAEPre2007 fellowship from CSIC (JAEPre-010-2007). Patients and voluntary controls are warmly acknowledged for their contribution to this research. We acknowledge support of the publication fee by the CSIC Open Access Publication Support Initiative through its Unit of Information Resources for Research (URICI).Peer reviewe