Alteration of expression levels of genes involved in maintaining dopaminergic system as trigger for GBA-associated Parkinson's disease

Introduction. Mutations in the GBA gene are the major genetic risk factor for Parkinson's disease (PD), neurodegenerative movement disorder that affects dopaminergic neurons. Not all carriers of GBA mutations (GBA-Carriers) develop PD during their lives. We supposed association of development of PD among GBA-carriers with more pronounced changes in expression levels of genes involved in the maintenance of dopaminergic neurons than in sporadic PD. The aim was to estimate expression levels of JUNB, NR4A2, SLC18A2, EGR1 genes in GBA-PD patients, GBA-carriers, PD patients and controls.