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Your search keyword '"Sergei V. Vissarionov"' showing total 2 results
Start Over Author "Sergei V. Vissarionov" Publisher jcdr research and publications private limited
2 results on '"Sergei V. Vissarionov"'

1. Folate Cycle and Interleukin 6 Genes Polymorphisms in Children with Idiopathic Scoliosis and its Relation with Pathogenesis of Disease: A Case Control Study

Author

Sergei V. Vissarionov, Alexandra N. Filippova, Marina V. Sogoyan, Dmitry N. Kokushin, Alexei G Baindurashvili, and Sergei E Khalchitsky

Subjects
biology, teenagers, business.industry, Clinical Biochemistry, lcsh:R, Case-control study, lcsh:Medicine, Idiopathic scoliosis, General Medicine, Disease, Pathogenesis, molecular diagnostics, predisposition genes, Immunology, biology.protein, Medicine, Interleukin 6, business, spinal curvature, Gene
Abstract

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.

Published
2019

2. Analysis of Xenobiotics Biotransformation and DNA Repair Genes as Factors of Aetiology, Pathogenesis and Criteria of Progression in Children with Congenital Spine Deformities

Author

Sergei E Khalchitsky, Marina V Sogoyan, Sergei V Vissarionov, Alexei G Baindurashvili, Dmitry N Kokushin, and Alexandra N Filippova

Subjects
children, dna repair, detoxification, molecular diagnostics, Medicine
Abstract

Introduction: Spine congenital curvatures formed as a result of anomalies in the development of vertebral bodies leads to severe and rigid deformities of the spinal column in the adolescent age and are often accompanied by irreversible neurologic disorders. Therefore genetic markers study of the congenital malformations is an important and urgent task. Aim: The aim of the study is to determine the frequency of detoxification and reparation genes polymorphism in congenital spine deformities patients. Materials and Methods: The study of 200 children with Congenital Spine Deformities (CSD) between the age of 1 year 2 months to 16 years and 96 healthy children aged from 2 to 16 years without pathology of the spine was carried out by the methods of clinical and radiographic diagnostics. Molecular diagnostics was carried out by analysing multiple polymorphic regions in the genes of detoxification and DNA repair, which are of clinical importance due to their predisposing factors in various congenital malformations. Genotyping of the gene polymorphism was performed using Polymerase Chain Reaction (PCR) and the PCR products were visualised by gel electrophoresis. Results: The polymorphisms of the genes CYP1A2, GSTM1, GSTT1, GSTP1, NAT2, XRCC1, XRCC3 and their frequency distribution among patients with CSD and control group were investigated. Significant differences in the distribution of genotypes compared with the control group were found in the polymorphic regions of the genes CYP1A2, GSTM1, GSTT1, NAT2, XRCC3. However, in the GSTP1 and XRCC1 genes, no significant differences between the CSD patients and the control group was observed. Conclusion: All patients with congenital spine deformities had significant changes in some candidate genes alleles. It was found that the number of minor alleles in the genes under investigation correlate with the severity of congenital deformity and the variability of vertebral anomalies. It was determined that in children with multiple and combined defects in the spine development, there is a greater number of mutations in the detoxification and DNA-repair genes compared to children with isolated vertebral anomalies.

Published
2018
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