Search

Polymorphisms of neurotransmitter metabolism genes were studied in patients with prostate cancer (PC) characterized by either reduced or extended serum prostate-specific antigen doubling time (PSADT) corresponding to unfavorable and favorable disease prognosis respectively. The 'unfavorable prognosis' group (40 cases) was defined by PSADT ≤ 2 months, whereas patients in the 'favorable prognosis' group (67 cases) had PSADT ≥ 30 months. The following gene polymorphisms known to be associated with neuropsychiatric disorders were investigated: a) the STin2 VNTR in the serotonin transporter SLC6A4 gene; b) the 30-bp VNTR in the monoamine oxidase A MAOA gene; c) the Val158Met polymorphism in the catechol-ortho-methyltransferase COMT gene; d) the promoter region C-521T polymorphism and the 48 VNTR in the third exon of the dopamine receptor DRD4 gene. The STin2 12R/10R variant of the SLC6A4 gene (OR = 2.278; 95% CI = 0.953-5.444) and the -521T/T homozygosity of the DRD4 gene (OR = 1.579; 95% CI = 0.663-3.761) tended to be overrepresented in PC patients with unfavorable disease prognosis. These gene variants are regarded as protective against schizophrenia, and the observed trend may be directly related to a reduced PC risk described for schizophrenia patients. These results warrant further investigation of the potential role of neurotransmitter metabolism gene polymorphisms in PC pathogenesis.

Introduction. Spine congenital curvatures, which form from anomalies in the development of vertebral bodies, comprise 3.2% of the general structure of vertebral column deformities. Several such anomalies present during adolescence lead to severe and rigid curvature of the spinal column and are often accompanied by irreversible neurological disorders. The timely detection of the progressive forms of curvature and early surgical treatment are measures that prevent against neurological deficit development and gross congenital deformities of the spine in children. However, it is extremely difficult to predict the course of congenital spinal column deformation in infants based on clinical and radiological investigations alone. Therefore, the study of congenital malformation genetic markers is an essential and immediate task. Materials and methods. Two hundred 1.2–16-year-old children with congenital deformities of the thoracic and lumbar spine were examined using clinical and radiation diagnostic methods. Molecular genetic studies were performed by analyzing several polymorphic regions in the genes for the first and second stages of detoxification and DNA repair, which are of clinical importance as predisposing factors in several congenital malformations. Polymorphisms were determined using the polymerase chain reaction (PCR) method. The results were determined using gel electrophoresis of DNA in a polyacrylamide gel. Results and discussion. The polymorphisms of the genes CYP1A2, NAT2, GSTM1, GSTT1, GSTP1, XRCC1, XRCC3 and their frequency distributions among patients with congenital spine deformities (CSD) were studied. The results for each gene are presented in the digital diagrams, and their indicators are compared with the values of the control group. Conclusion. In most patients (83%) with spinal congenital deformations, there were mutations of candidate genes in the homozygous state; however, the simultaneous carriage of several mutant alleles in patients with CSD was more than twice that in the control group. Children with multiple and combined defects in spine development noted the presence of more mutations in the genes for detoxification and DNA repair. The obtained results already assume to a certain extent the course of the spine congenital deformity in patients at an early age. However, the final evaluation and identification of molecular genetic criteria for the progressive course of spine congenital deformities in children requires further study.

Background. One of the most common orthopedic pathologies in children aged 10–18 years is idiopathic scoliosis, which is diagnosed in 2%–3% of cases in the general population. Aim. To compare the distributions of the allele frequencies and folate cycle gene genotypes among the MTHFR 677 C>T (rs 1801133), MTHFR 1298 A>C (rs 1801131), MTR 2756 A>G (rs 1805087), and MTRR 66 A>G (rs 1801394) polymorphisms in patients with idiopathic scoliosis and in children without spinal deformity. To also analyze the relationship between the studied molecular-genetic markers and development of scoliosis. Materials and methods. Clinical and genetic examinations were performed in 48 children with idiopathic scoliosis and 32 healthy children. Molecular-genetic testing was performed by polymerase chain reaction. Results and discussion. We found that the percentage of carriers of pathological alleles and genotypes was higher in the children with idiopathic scoliosis than in the general population. The number of pathological alleles and genotypes associated with the MTHFR (A1289C) and MTRR genes was significantly higher in patients with idiopathic scoliosis than in the control group. Сonclusion. We found that the percentage of carriers of pathological alleles and genotypes was higher in children with idiopathic scoliosis than in the population.

Introduction: Spine deformity formed as a result of anomalies in its development and this is one of the common orthopaedic pathologies of childhood. The results of some genetic studies did not show significant relationship between the different polymorphisms studied and the rate of progression of Idiopathic Scoliosis (IS). The study on new genetic markers for IS is an important and urgent task. Aim: To study the molecular genetic analysis of folate cycle genes and Interleukin 6 (IL-6) gene polymorphism in children with progressive type of IS. Materials and Methods: The case-control study was conducted on 110 children with IS between the age of 14 years to 18 years and 110 healthy volunteers without pathology of the spine. The study was carried out by the methods of molecular genetics analysis. Molecular diagnostics were carried out by analysing multiple polymorphic regions in the folate group and IL-6 gene, which are of clinical importance due to their predisposing factors in spine malformations. Genotyping of the gene polymorphism was performed using Polymerase Chain Reaction (PCR) in conventional and real-time method and the PCR products were analysed directly on the CFX96 Touch RealTime PCR Detection System or by gel electrophoresis. Statistical analysis was performed with software package Statistica 6.0. Results: The polymorphisms of the genes MTHFR, MTR, MTRR, IL-6 and their frequency distribution among patients with IS and control group were investigated. Some differences in the distribution of genotypes compared with the control group were found in the MTHFRA1298C, MTHFRC677T, MTRA2756G, MTRRA66G, and IL-6G (-174)C polymorphisms. The most significant differences were revealed for MTRA2756G polymorphism, and especially when dividing the group of patients with IS by gender. Conclusion: The results suggested that some polymorphisms of the folate group and IL-6 genes are involved in the pathogenesis of IS. This is also indicated by the well-known role that these genes do play in the ontogeny of the spine.

It was created the collection of the associative nitrogen-fixing bacteria from genera Aquaspirilium, Azospirillum, Rhodospirillum, Arthrobacter, Flavobacterium, Bacillus, isolated from rhizoplane of grain and fodder cereals, new fodder crops from families of Apiaceae, Brassicaceae, Asteraceae.