Antioxidant protection is one of the key reactions of cardiomyocytes (CMCs) in response to myocar... more Antioxidant protection is one of the key reactions of cardiomyocytes (CMCs) in response to myocardial damage of various origins. The thioredoxin interacting protein (TXNIP) is an inhibitor of thioredoxin (TXN). Over the recent few years, TXNIP has received significant attention due to its wide range of functions in energy metabolism. In the present work, we studied the features of the redox-thiol systems, in particular, the amount of TXNIP and glutathione synthetase (GS) as markers of oxidative damage to CMCs and antioxidant protection, respectively. This study was carried out on 38-week-old Wistar-Kyoto rats with insulin-dependent diabetes mellitus (DM) induced by streptozotocin, on 38- and 57-week-old hypertensive SHR rats and on a model of combined hypertension and DM (38-week-old SHR rats with DM). It was found that the amount of TXNIP increased in 57-week-old SHR rats, in diabetic rats and in SHR rats with DM. In 38-week-old SHR rats, the expression of TXNIP significantly decre...
Introduction. Head and neck cancer is a heterogenous group of malignant tumors of different etiol... more Introduction. Head and neck cancer is a heterogenous group of malignant tumors of different etiologies, molecular mechanisms of which are still insufficiently studied.Aim. Investigation of DNA methylation status of some tumor associated genes (RASSF1A, RASSF2, RASSF5, CDO1, MEST and WIF1) in patients with head and neck squamous cell carcinoma.Materials and methods. The DNA methylation level of normal and tumor tissues was analyzed using bisulfite conversion and methylation-sensitive high-resolution melting in 25 patients (21 men and 4 women) diagnosed with neck squamous cell carcinoma.Results. There were significant differences in levels of DNA methylation between tumor and normal tissues in the CDO1 and WIF1 genes in all groups and subgroups of patients (larynx and other cancers, squamous cell carcinoma keratinizing and non-keratinizing, primary and recurrent tumor, smokers and non-smokers). The methylation level in the CDO1 gene in tumor tissue was significantly increased in the T...
Background. Premature termination of pregnancy, including miscarriage, remains among the critical... more Background. Premature termination of pregnancy, including miscarriage, remains among the critical problems in modern obstetrics and gynaecology practices. In the context of early gestational failure and the notion that 80% of early miscarriages are triggered by genetic reset — some natural filter — an analysis of current knowledge of the genetic aspects of missed abortion (MA) appears relevant.Objectives. A study of the haplotype frequencies for VDR rs10735810, MTHFR rs1801131, MTHFR rs1801133, MTR rs1805087, MTRR rs1801394 and VEGFA rs3025039 polymorphic loci and their association with vitamin D deficiency in women with missed abortion.Methods. A total of 178 women aged 18 to 41 years were examined. The main cohort consisted of MA patients (n = 101) who were divided between cohort I (n = 58; patients with primary MA) and cohort II (n = 43; patients with recurrent MA). The control cohort (n = 77) consisted of women with a successful pregnancy (Z34.0) entailing a term and live birth....
Artificial light is characterized by certain features of its impact on the body in terms of its s... more Artificial light is characterized by certain features of its impact on the body in terms of its spectral distribution of power, duration of exposure and intensity. Short waves, perceived as blue light, are the strongest synchronizing agent for the circadian system. In the present work, we investigated the features of the circadian rhythms of blood pressure (BP), heart rate (HR), the excretion of electrolytes and the secretion of melatonin in normotensive (Wistar–Kyoto) and hypertensive (SHR) rats under the action of monochromatic blue light in the daytime period. It was found that the exposure of Wistar–Kyoto rats to monochromatic blue light was accompanied by a significant decrease in nighttime and 24 h systolic BP. The most remarkable changes are characteristic of the HR in SHR rats under monochromatic light. A significant decrease in HR in each time period was found, but the predominance of nighttime over daytime values remained in SHR animals. There was also a significant increa...
Background: In recent years, the interest in genetic predisposition studies for coronary artery d... more Background: In recent years, the interest in genetic predisposition studies for coronary artery disease and restenosis has increased. Studies show that polymorphisms of genes encoding folate cycle and homocysteine metabolism enzymes significantly contribute to atherogenesis and endothelial dysfunction. The purpose of this study was to examine some SNPs of genes coding for folate cycle enzymes and DNA methyltransferases as risk factors for in-stent restenosis. Methods: The study included 113 patients after stent implantation and 62 patients without signs of coronary artery disease at coronary angiography as the control group. Real-time PCR and RFLP-PCR were applied to genotype all participants for MTHFR rs1801133, MTHFR rs1801131, MTR rs1805087, MTRR rs1801394, DNMT1 rs8101626, DNMT3B rs1569686, and DNMT3B rs2424913 gene polymorphisms. Statistical data processing was carried out using the R language and the SPSS Statistics 20 software. Results: Statistically significant differences i...
This study presents the genetic polymorphism of HLA-antigens in acquired aplastic anemia (AAA) in... more This study presents the genetic polymorphism of HLA-antigens in acquired aplastic anemia (AAA) in 147 children (85 boys и 62 girls) aged 1 to 18 with. The control group is consisted of 1700 umbilical cord blood samples of healthy newborns. The genetic polymorphism of HLA was studied in groups of children with AAA, divided by gender and age. Our results revealed distinction in HLA-markers of predisposition and sustainability to AAA. Possible differences in factors of immunogenetic predisposition suggest different mechanisms involved in the development of the disease in different groups of children and reconsider the existing model of the pathogenesis of AAA.
The article presents the results of the study of the genetic polymorphism of HLA-antigens in 65 a... more The article presents the results of the study of the genetic polymorphism of HLA-antigens in 65 adult patients with ulcerative colitis (UC) living in Moscow region. It was found that certain groups of HLA alleles are associated with the pathogenesis of UC. Immunogenetic factors of predisposition and sustainability to this disease depending on gender and age were revealed. The relationship of immunogenetic factors with clinical forms of the disease, course of the UC and response to therapy with glucocorticoids were shown.
International Journal of Biology and Biomedical Engineering, 2022
Essential hypertension (EH) is a multifactorial disease with a hereditary predisposition. Genes e... more Essential hypertension (EH) is a multifactorial disease with a hereditary predisposition. Genes encoding the renin-angiotensin system (RAS) play a leading role in the stabilization of elevated BP in the course of EH, which determines the relevance of our clinical and genetic study. The study was based on the determination of the frequencies of polymorphic markers of the AGT, AGTR1, ACE, ITGB3, PPARG genes in 2 groups, depending on the age of patients (up to 60 years - group1, n=18, and after 60 years - group2, n=31), for the intergroup frequencies comparison and comparison of group frequencies with population data. Genotyping by gene polymorphisms was performed by real-time polymerase chain reaction. 24-hour ambulatory BP monitoring (ABPM) and Holter HR monitoring were conducted. Phenotypic features of the course of EH were accompanied by changes in the frequency characteristics of the studied genotypes. In patients of group 1, an increase in the frequency of protective genotypes of...
International Journal of Biology and Biomedical Engineering, 2021
A clinical-genetic study using ABPM (24-hour BP monitoring) and Holter’s ECG methods in 49 pa-tie... more A clinical-genetic study using ABPM (24-hour BP monitoring) and Holter’s ECG methods in 49 pa-tients with essential arterial hypertension (group 1: 17 patients without sufficient nocturnal BP de-crease СI≤10%, and group 2: 32 patients with suf-ficient nocturnal BP decrease СI≥10%,) was per-formed for comparative analysis of the genotype frequencies of ACE, AGT, AGTR1, ITGB3, and PPARG. The study was conducted in order to clari-fy the pathogenetic mechanisms of the implementa-tion of different dynamics of nocturnal blood pres-sure in patients with hypertension without metabol-ic syndrome. It was found that in group 1, protec-tive genotype II of the ACE gene was more com-mon (p ≤ 0.025) than in the population data. A sig-nificant increase (p ≤ 0.025) in the frequency of the CC genotype of the AGTR1 gene responsible for the formation of insulin resistance compared to the population data was combined with a significant increase in the frequency of autonomic dysfunction in patients of gr...
Relevance. Currently, the number of percutaneous coronary interventions continues to increase, wh... more Relevance. Currently, the number of percutaneous coronary interventions continues to increase, which leads to an increase in the absolute number of restenosis cases, which is the main complication of the long-term postoperative period. The search for risk factors responsible for restenosis and artery re-narrowing mechanisms in order to prevent this complication is an important goal in interventional cardiology. Risk factors for the restenosis development include clinical, angiographic and genetic factors. An active search for biomolecular markers associated with the coronary artery restenosis is currently underway. Objective: to study the role of polymorphic variants C-174G of the IL6 gene and C-819T of the IL10 gene as a risk factor for the development of restenosis in patients after stent implantation. Materials and Methods : The study included 113 patients with stable coronary artery disease, who had previously undergone balloon angioplasty and implantation of drug-eluting stents...
Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculi... more Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculitis complicated by the formation of coronary artery aneurysms (CAA). Its pathogenesis is based on immune inflammation with an increase in the concentration of pro-inflammatory cytokines, the level of C-reactive protein (CRP), and coagulation disorder.to search for polymorphisms of genes cluster of differentiation CD14, CRP, fibrinogen beta chain (FGB), associated with the KD development and a predisposition to the CAA formation among patients with KD living in Moscow and the Moscow region.genotyping for gene polymorphisms CD14 –159 C>T (rs2569190), CRP 3872 C>T (rs1205), FGB – 455 G>A (rs1800790) by PCR in 31 children 1 month – 10 years old (median age 19 months [9,0; 38,5]) with KD, among them, in 10 patients the disease was complicated by CAA formation according to echocardiography, and 30 children of the control group.Three out of six investigated SNPs showed statistically si...
Pediatria. Journal named after G.N. Speransky, 2021
Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculi... more Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculitis complicated by the formation of coronary artery aneurysms (CAA). Its pathogenesis is based on immune inflammation with an increase in the concentration of pro-inflammatory cytokines, the level of C-reactive protein (CRP), and coagulation disorder. Objective of the study: to search for polymorphisms of genes interleukin-6 (IL6), vascular endothelial growth factor A (VEGFA), cluster of differentiation CD14, CRP, fibrinogen beta chain (FGB), associated with the KD development and a predisposition to the CAA formation among patients with KD living in Moscow and the Moscow region. Materials and methods: genotyping for gene polymorphisms IL6 –174G>C (rs1800795), VEGFA –634 C>G (rs2010963), CD14 –159 C>T (rs2569190), CRP 3872 C>T (rs1205), FGB – 455 G>A (rs1800790) by PCR in 31 children 1 month – 10 years old (median age 19 months [9,0; 38,5]) with KD, among them, in 10 patie...
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate met... more Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.
Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased forma... more Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased formation of calcium-oxalate stones in kidneys with development of nephrolithiasis and chronic kidney disease. The article summarizes the modern information on the diagnostics and treatment of the disorder depending on genotype of the patient (AGXT, GRHPR, HOGA1 genes). The evaluation of the molecular genetic aetiology of the kidney stone disease contributes to the personalized treatment and prevention of the pathology in the patients and their relatives.
Antioxidant protection is one of the key reactions of cardiomyocytes (CMCs) in response to myocar... more Antioxidant protection is one of the key reactions of cardiomyocytes (CMCs) in response to myocardial damage of various origins. The thioredoxin interacting protein (TXNIP) is an inhibitor of thioredoxin (TXN). Over the recent few years, TXNIP has received significant attention due to its wide range of functions in energy metabolism. In the present work, we studied the features of the redox-thiol systems, in particular, the amount of TXNIP and glutathione synthetase (GS) as markers of oxidative damage to CMCs and antioxidant protection, respectively. This study was carried out on 38-week-old Wistar-Kyoto rats with insulin-dependent diabetes mellitus (DM) induced by streptozotocin, on 38- and 57-week-old hypertensive SHR rats and on a model of combined hypertension and DM (38-week-old SHR rats with DM). It was found that the amount of TXNIP increased in 57-week-old SHR rats, in diabetic rats and in SHR rats with DM. In 38-week-old SHR rats, the expression of TXNIP significantly decre...
Introduction. Head and neck cancer is a heterogenous group of malignant tumors of different etiol... more Introduction. Head and neck cancer is a heterogenous group of malignant tumors of different etiologies, molecular mechanisms of which are still insufficiently studied.Aim. Investigation of DNA methylation status of some tumor associated genes (RASSF1A, RASSF2, RASSF5, CDO1, MEST and WIF1) in patients with head and neck squamous cell carcinoma.Materials and methods. The DNA methylation level of normal and tumor tissues was analyzed using bisulfite conversion and methylation-sensitive high-resolution melting in 25 patients (21 men and 4 women) diagnosed with neck squamous cell carcinoma.Results. There were significant differences in levels of DNA methylation between tumor and normal tissues in the CDO1 and WIF1 genes in all groups and subgroups of patients (larynx and other cancers, squamous cell carcinoma keratinizing and non-keratinizing, primary and recurrent tumor, smokers and non-smokers). The methylation level in the CDO1 gene in tumor tissue was significantly increased in the T...
Background. Premature termination of pregnancy, including miscarriage, remains among the critical... more Background. Premature termination of pregnancy, including miscarriage, remains among the critical problems in modern obstetrics and gynaecology practices. In the context of early gestational failure and the notion that 80% of early miscarriages are triggered by genetic reset — some natural filter — an analysis of current knowledge of the genetic aspects of missed abortion (MA) appears relevant.Objectives. A study of the haplotype frequencies for VDR rs10735810, MTHFR rs1801131, MTHFR rs1801133, MTR rs1805087, MTRR rs1801394 and VEGFA rs3025039 polymorphic loci and their association with vitamin D deficiency in women with missed abortion.Methods. A total of 178 women aged 18 to 41 years were examined. The main cohort consisted of MA patients (n = 101) who were divided between cohort I (n = 58; patients with primary MA) and cohort II (n = 43; patients with recurrent MA). The control cohort (n = 77) consisted of women with a successful pregnancy (Z34.0) entailing a term and live birth....
Artificial light is characterized by certain features of its impact on the body in terms of its s... more Artificial light is characterized by certain features of its impact on the body in terms of its spectral distribution of power, duration of exposure and intensity. Short waves, perceived as blue light, are the strongest synchronizing agent for the circadian system. In the present work, we investigated the features of the circadian rhythms of blood pressure (BP), heart rate (HR), the excretion of electrolytes and the secretion of melatonin in normotensive (Wistar–Kyoto) and hypertensive (SHR) rats under the action of monochromatic blue light in the daytime period. It was found that the exposure of Wistar–Kyoto rats to monochromatic blue light was accompanied by a significant decrease in nighttime and 24 h systolic BP. The most remarkable changes are characteristic of the HR in SHR rats under monochromatic light. A significant decrease in HR in each time period was found, but the predominance of nighttime over daytime values remained in SHR animals. There was also a significant increa...
Background: In recent years, the interest in genetic predisposition studies for coronary artery d... more Background: In recent years, the interest in genetic predisposition studies for coronary artery disease and restenosis has increased. Studies show that polymorphisms of genes encoding folate cycle and homocysteine metabolism enzymes significantly contribute to atherogenesis and endothelial dysfunction. The purpose of this study was to examine some SNPs of genes coding for folate cycle enzymes and DNA methyltransferases as risk factors for in-stent restenosis. Methods: The study included 113 patients after stent implantation and 62 patients without signs of coronary artery disease at coronary angiography as the control group. Real-time PCR and RFLP-PCR were applied to genotype all participants for MTHFR rs1801133, MTHFR rs1801131, MTR rs1805087, MTRR rs1801394, DNMT1 rs8101626, DNMT3B rs1569686, and DNMT3B rs2424913 gene polymorphisms. Statistical data processing was carried out using the R language and the SPSS Statistics 20 software. Results: Statistically significant differences i...
This study presents the genetic polymorphism of HLA-antigens in acquired aplastic anemia (AAA) in... more This study presents the genetic polymorphism of HLA-antigens in acquired aplastic anemia (AAA) in 147 children (85 boys и 62 girls) aged 1 to 18 with. The control group is consisted of 1700 umbilical cord blood samples of healthy newborns. The genetic polymorphism of HLA was studied in groups of children with AAA, divided by gender and age. Our results revealed distinction in HLA-markers of predisposition and sustainability to AAA. Possible differences in factors of immunogenetic predisposition suggest different mechanisms involved in the development of the disease in different groups of children and reconsider the existing model of the pathogenesis of AAA.
The article presents the results of the study of the genetic polymorphism of HLA-antigens in 65 a... more The article presents the results of the study of the genetic polymorphism of HLA-antigens in 65 adult patients with ulcerative colitis (UC) living in Moscow region. It was found that certain groups of HLA alleles are associated with the pathogenesis of UC. Immunogenetic factors of predisposition and sustainability to this disease depending on gender and age were revealed. The relationship of immunogenetic factors with clinical forms of the disease, course of the UC and response to therapy with glucocorticoids were shown.
International Journal of Biology and Biomedical Engineering, 2022
Essential hypertension (EH) is a multifactorial disease with a hereditary predisposition. Genes e... more Essential hypertension (EH) is a multifactorial disease with a hereditary predisposition. Genes encoding the renin-angiotensin system (RAS) play a leading role in the stabilization of elevated BP in the course of EH, which determines the relevance of our clinical and genetic study. The study was based on the determination of the frequencies of polymorphic markers of the AGT, AGTR1, ACE, ITGB3, PPARG genes in 2 groups, depending on the age of patients (up to 60 years - group1, n=18, and after 60 years - group2, n=31), for the intergroup frequencies comparison and comparison of group frequencies with population data. Genotyping by gene polymorphisms was performed by real-time polymerase chain reaction. 24-hour ambulatory BP monitoring (ABPM) and Holter HR monitoring were conducted. Phenotypic features of the course of EH were accompanied by changes in the frequency characteristics of the studied genotypes. In patients of group 1, an increase in the frequency of protective genotypes of...
International Journal of Biology and Biomedical Engineering, 2021
A clinical-genetic study using ABPM (24-hour BP monitoring) and Holter’s ECG methods in 49 pa-tie... more A clinical-genetic study using ABPM (24-hour BP monitoring) and Holter’s ECG methods in 49 pa-tients with essential arterial hypertension (group 1: 17 patients without sufficient nocturnal BP de-crease СI≤10%, and group 2: 32 patients with suf-ficient nocturnal BP decrease СI≥10%,) was per-formed for comparative analysis of the genotype frequencies of ACE, AGT, AGTR1, ITGB3, and PPARG. The study was conducted in order to clari-fy the pathogenetic mechanisms of the implementa-tion of different dynamics of nocturnal blood pres-sure in patients with hypertension without metabol-ic syndrome. It was found that in group 1, protec-tive genotype II of the ACE gene was more com-mon (p ≤ 0.025) than in the population data. A sig-nificant increase (p ≤ 0.025) in the frequency of the CC genotype of the AGTR1 gene responsible for the formation of insulin resistance compared to the population data was combined with a significant increase in the frequency of autonomic dysfunction in patients of gr...
Relevance. Currently, the number of percutaneous coronary interventions continues to increase, wh... more Relevance. Currently, the number of percutaneous coronary interventions continues to increase, which leads to an increase in the absolute number of restenosis cases, which is the main complication of the long-term postoperative period. The search for risk factors responsible for restenosis and artery re-narrowing mechanisms in order to prevent this complication is an important goal in interventional cardiology. Risk factors for the restenosis development include clinical, angiographic and genetic factors. An active search for biomolecular markers associated with the coronary artery restenosis is currently underway. Objective: to study the role of polymorphic variants C-174G of the IL6 gene and C-819T of the IL10 gene as a risk factor for the development of restenosis in patients after stent implantation. Materials and Methods : The study included 113 patients with stable coronary artery disease, who had previously undergone balloon angioplasty and implantation of drug-eluting stents...
Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculi... more Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculitis complicated by the formation of coronary artery aneurysms (CAA). Its pathogenesis is based on immune inflammation with an increase in the concentration of pro-inflammatory cytokines, the level of C-reactive protein (CRP), and coagulation disorder.to search for polymorphisms of genes cluster of differentiation CD14, CRP, fibrinogen beta chain (FGB), associated with the KD development and a predisposition to the CAA formation among patients with KD living in Moscow and the Moscow region.genotyping for gene polymorphisms CD14 –159 C>T (rs2569190), CRP 3872 C>T (rs1205), FGB – 455 G>A (rs1800790) by PCR in 31 children 1 month – 10 years old (median age 19 months [9,0; 38,5]) with KD, among them, in 10 patients the disease was complicated by CAA formation according to echocardiography, and 30 children of the control group.Three out of six investigated SNPs showed statistically si...
Pediatria. Journal named after G.N. Speransky, 2021
Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculi... more Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculitis complicated by the formation of coronary artery aneurysms (CAA). Its pathogenesis is based on immune inflammation with an increase in the concentration of pro-inflammatory cytokines, the level of C-reactive protein (CRP), and coagulation disorder. Objective of the study: to search for polymorphisms of genes interleukin-6 (IL6), vascular endothelial growth factor A (VEGFA), cluster of differentiation CD14, CRP, fibrinogen beta chain (FGB), associated with the KD development and a predisposition to the CAA formation among patients with KD living in Moscow and the Moscow region. Materials and methods: genotyping for gene polymorphisms IL6 –174G>C (rs1800795), VEGFA –634 C>G (rs2010963), CD14 –159 C>T (rs2569190), CRP 3872 C>T (rs1205), FGB – 455 G>A (rs1800790) by PCR in 31 children 1 month – 10 years old (median age 19 months [9,0; 38,5]) with KD, among them, in 10 patie...
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate met... more Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.
Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased forma... more Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased formation of calcium-oxalate stones in kidneys with development of nephrolithiasis and chronic kidney disease. The article summarizes the modern information on the diagnostics and treatment of the disorder depending on genotype of the patient (AGXT, GRHPR, HOGA1 genes). The evaluation of the molecular genetic aetiology of the kidney stone disease contributes to the personalized treatment and prevention of the pathology in the patients and their relatives.
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