Parkinson’s disease (PD) is one of the most common degenerative diseases of the extrapyramidal system, the frequency of which increases with age. It is now believed that the causes of PD are environmental and genetic factors. Important genetic factors resulting in PD are mutations in the PARK2 gene, which may affect the level of Parkin. The aim of the study was conducted on 234 individuals of the Polish population: 89 patients diagnosed with PD, 32 patients diagnosed with Parkinson’s syndrome and 113 individuals from the control group without neurological symptoms and characteristics of dementia. As a result of the methods of analysis demonstrated the following: G930C mutation of exon 8 in the PARK2 gene, which was analysed by performing PCR-RFLP. Detection of deletion of exon 2 using PCR. Whereas the evaluation of mutations within exon 11 in PARK2 gene was performed using HRM method and sequencing. Also performed to measure the concentration of Parkin’s plasma in blood using ELISA method. The study results no presence of the deletion of exon 2 in the PARK2 gene in any individual study. At the same time, it was almost 3-times higher frequency of G930C mutation in exon 8 PARK2 in patients with PD and almost 6-times higher incidence of mutation G1281 A in exon 11 of PARK2 in PD patients compared with controls. At the same time, in the present study demonstrated that the presence of mutations in 8 and 11 exon of PARK2 gene does not appear to be associated with the generate of Parkin’s plasma concentration. Genotype-fenotype study in the PARK2 gene can constitute intravital diagnostic tests in patients with PD, as well as in patients diagnosed with Parkinson’s syndrome in the course of a degenerative disease.
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