Изучение молекулярно-генетических маркеров болезни Паркинсона в Украине

Анотація

Aims. Genetic factors play a major role in the development of Parkinson’s disease (PD). The study was conducted to examine frequency of mutations in several genes associated with PD and assess telomeres length in control group and in patients. Methods. Genotyping was performed by methods based on real-time PCR. Mutations in the genes GBA, LRRK2, SNCA and APOE were genotyped. Results. Mutation g.40734202G>A in the LRRK2 gene was found only in patients with PD. Two mutations in the GBA gene were studied. Among patients heterozygous s.483T>C carriers were revealed. Mutation c.1226A>G was not detected in controls. While in the group of patients heterozygous carriers were found. Mutation c.209G>A in the SNCA gene was not detected neither in patients nor in controls. The study of APOE polymorphism was revealed significantly higher frequency of E3/E4 genotype in patients. Telomere length in buccal cells was shorter in patients with PD. Conclusions. Mutations in the genes GBA, LRRK2 and APOE can be used for diagnosis of PD.

Keywords: Parkinson’s disease, genes LRRK2, GBA, SNCA, APOE.