Impulsive–compulsive and related behavioral disorders (ICD) are drug-induced non-motor symptoms of Parkinson’s disease (PD). Recently research has focused on evaluating whether ICD could be predicted and managed using a pharmacogenetic approach based on dopaminergic therapies, which are the main risk factors. The aim of our study was to evaluate the role of candidate genes such as DBH, DRD2, MAOA, BDNF, COMT, SLC6A4, SLC6A3, ACE, DRD1 gene polymorphisms in the pathogenesis of ICD in PD. We compared patients with PD and ICD (n = 49), patients with PD without ICD (n = 36) and a healthy control group (n = 365). ICD was diagnosed using the QUIP questionnaires and specific diagnostic criteria for subtypes of ICD. Genotyping was conducted using a number of PCR techniques and SNaPshot. Statistical analysis was performed using WinPepi and APSampler v3.6 software. PCA testing was conducted using RStudio software v1.4.1106-5. The following substitutions showed statistically significant correlations with PD and ICD: DBH (rs2097629, rs1611115), DRD2 (rs6275, rs12364283, rs1076560), ACE (rs4646994), DRD1 (rs686), BDNF (rs6265), these associations are novel in Russian PD patients. Our findings suggest that polymorphisms in DBH, BDNF, DRD2, ACE genes in Russian subjects are associated with an increased risk of ICD development.
6 March 2019 in Archives of Dermatological Research
The transcriptional activity of RHOA , SEMA3B , and CKAP2 genes was assessed in blood samples of leukaemia patients and healthy donors. In the blood of healthy donors, RHOA and CKAP2 gene expression was not detected, and low SEMA3B gene expression was observed. Significant elevation of expression of all the three genes was shown in the case of acute myelogenous leukaemia. In cases of remission of acute lymphoblastic leukaemia and myelodysplastic syndrome, no expression of all three genes was detected. The long isoform of the CKAP2 gene was highly expressed in most analysed types of leukaemia.
1 March 2002 in Neuroscience and Behavioral Physiology