Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study

Abstract

The objective of the study was to validate our previous results obtained during the transcriptome analysis of the primary culture of peripheral blood macrophages in patients with Parkinson's disease associated with mutations in the GBA gene (GBA-PD) in that reduced expression of the neurogenesis genes EGR1 (early growth response protein 1), NR4A2 (nuclear receptor 4A2), JUNB (transcription factor jun-B) in patients with GBA-PD.Methods and materials. The study included 14 patients with GBA-PD, 15 GBA-carriers, 30 patients with Parkinson's disease (PD) and 44 persons of the control group. The assessment of relative mRNA level of neurogenesis genes EGR1, NR4A2, JUNB in peripheral blood mononuclear cells were carried out by real-time quantitative polymerase chain reaction (PCR) using TaqMan fluorescent probes or EvaGreen fluorescent DNA dye.Results. Relative mRNA level of the JUNB gene in peripheral blood mononuclears was decreased in the group of patients with GBA-PD compared to controls (p=0.034). We found out that the relative mRNA level of the NR4A2 gene in peripheral blood mononuclears was increased in the group of patients with GBA-carriers compared to GBA-PD, patients with PD and controls (p=0.0029, p=0.00045, p=0.0024 respectively). There were no statistically significant differences in the mRNA level of the EGR1 gene between all the study groups (p&gt;0.05).Conclusion. GBA-PD is characterized by reduced expression of the JUNB gene compared to control and of the NR4A2 gene compared to GBA-carriers.