Analiza polimorfizma rs34637584 u genu LRRK2 kod bolesnika sa Parkinsonovom bolešću

Abstract

Introduction: Parkinson's disease (PD) belongs to neurodegenerative diseases, and since the prevalence is 1% to 2% in people older than 65 years and over 4% in people older than 85 years, it is the second most common disease in this group. The cause of PD is the death of dopaminergic neurons in the CNS, primarily in the basal ganglia and the substantia nigra. The LRRK2/PARK8 gene is located on the short arm of chromosome 12. There are many variants in this gene associated with PD, and the most common of which is mutation c.6055G>A (p.Gly2019Ser), also referred to as rs34637584. Aim: The aim of this study was to determine the frequency of the c.6055G>A (rs34637584) mutation in the LRRK2 gene in a group of patients with PD from Serbia. Material and methods: The study included a group of 127 patients with PD from tertiary healthcare institutions in Serbia, as well as an appropriate control group without neurological diseases. Molecular genetic analysis was performed by real-time PCR, using a commercial TaqMan assay. Results: Mutation c.6055G>A ie. rs34637584 variant was detected in 1 of 127 examinees with PD (0.7%). That patient was without a previous family history of PD. This mutation was not found in the control group. Conclusion: The results obtained align with findings of previous studies for the European, especially the southern European population. If these results would be confirmed in a larger patient sample, testing of LRRK2 mutation c.6055G>A (rs34637584) should become part of the PD test protocol.