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BACKGROUND AND PURPOSE Mutations in LRRK2, encoding leucine-rich repeat kinase 2 (or Dardarin), cause autosomal dominant Parkinson's disease (AdPD) and are also found in sporadic PD (sPD). To investigate the frequency of LRRK2 mutations in a sample of Russian PD patients. METHODS We sequenced the complete coding region of LRRK2 in 65 patients with AdPD(More)
Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families(More)
Measurement of α-synuclein level in the peripheral blood was proposed as a diagnostic test for Parkinson’s disease. However, the results of these studies remain contradictory, probably because the examined samples included patients with different etiology of Parkinson’s disease. To verify this assumption we studied the levels of α-synuclein in peripheral(More)
Mutations in the Leucine Reach Repeat Kinase 2 (LRRK2) gene are the most frequent cause of familial Parkinson’s disease (PD). Although the precise physiological and pathological roles of LRRK2 are unclear, a direct link between mutant LRRK2 and programmed cell death (apoptosis) has been suggested. By using flow cytometry (PI+Annexin V(FITC)), we showed an(More)
Patients with artificial heart valves (AHV) belong to a unique multi-component model of the homeostasis system presenting an interaction of activated coagulation processes and pharmacological effects, on the one hand, and genetic peculiarities functioning homeostatic mechanisms, on the other hand. The described method was evaluated on the basis of(More)
Analysis of allele distribution of four single nucleotide polymorphisms (C-17G, C69T, G-191C and 319insG) of promoter and 5'-untranslated regions of the ABCA1 gene was carried out in a sample of 171 men, who had survived myocardial infarction before 45 years, and in controls. Two-fold increase of T69 and C-191 allele frequencies were observed in Russian(More)
BACKGROUND The link between Parkinson's disease (PD) and Gaucher disease (GD), the most common lysosomal storage disease associated with loss of glucocerebrosidase (GBA) activity, can be explained by abnormal accumulation of oligomeric alpha-synuclein (α-Syn) species resulting from mutations in the GBA gene. However, in GD, the relationship between GBA(More)