"LRRK2 G2019S, I2020T, R1441C GENE mutation analysis in patients with idiopathic Parkinson’s in Turkey"

Abstract

Abstract:Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease. The number of genetic studies on the etiopathogenesis of the disease has increased in the recent years. Leucine-rich repeat kinase 2 (LRRK2) gene mutation is the most common in autosomal dominant and sporadic PD. In this study, we aim to investigate the LRRK2 mutation frequency in patients diagnosed with idiopathic PD in and around Malatya province in eastern Turkey and to determine certain parameters in positive cases such as phenotype characteristics and treatment efficacy. A total of 170 patients (106 male and 64 female) were included. The most common loci of the LRRK2 gene (G2019S, I2020T and R1441C) were examined. To identify mutations, genotyping studies were performed by targeting related gene regions in isolated DNA using real-time polymerase chain reaction. No mutation was detected in any patient. Therefore, the probability of G2019S, I2020T and R1441C point mutations in the LRRK2 gene was very low in PD patients in Malatya region, which is a region of Turkey closer to the Middle East. Future studies investigating mutations involved in other loci of the LRRK2 gene with larger sample size in a wider geography in Turkey will provide more information about the genotype–phenotype relationship, incidence and carrier characteristics.