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Mutational analysis of the TRPC6 gene in patients with nephrotic syndrome
Obeidová, Lena ; Reiterová, Jana (advisor) ; Schierová, Michaela (referee)
Focal segmental glomerulosclerosis is one of the commonest cause of the nephrotic syndrome in adults patients. It is a damage of glomerulus characterized by leakage of proteins to urine and oedemas which usually develops into the end-stage renal disease within 10 years. Recently have been described familial forms of this disease which arise from injury to proteins making up filtration barrier of kidney. In 2005 non-selective ion channel TRPC6 was assigned among these proteins. In this thesis I focused on summarizing existing knowledge of the nephrotic syndrome, focal segmental glomerulosclerosis and involvement of TRPC6 in their origin. Second part of this work is devoted to the screening analysis of TRPC6 gene to discover possible mutations and polymorfisms in 47 patients with histologically proven focal segmental glomerulosclerosis or minimal change disease. The used methods were high resolution melting and direct sequencing. In the group of patients was detected no pathogenic mutation, only 2 known polymorfisms P15S and A404V and few changes which do not result in alteration of amino acid. So it seems TRPC6 gene mutations are a rare cause of the focal segmental glomerulosclerosis in adult patients in the Czech Republic.
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Genetic factors affecting course of selected forms of nephrotic syndrome
Šafaříková, Markéta ; Štekrová, Jitka (advisor) ; Král, Jiří (referee)
Nephrotic syndrome (NS) is characterized by proteinuria, hypalbuminemia and edemas. It occurs during first and second glomerulopathies. This disease can be divided into two groups: primary (idiopathic) and secondary. The heredity of the familial nephrotic syndrome is autosomal dominant and autosomal recessive. There are four most important genes that condition the formation of hereditary nephrotic syndrome in adult patienst. These genes are ACTN4, CD2AP, NPHS2 and TRPC6. The gene ACTN4, which encodes protein α-actinin 4, is responsible for the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). FSGS is included in first glomerulopathies. α-Actinin 4 was also researched for some types of carcinomas. There was performed the mutational analysis of the gene ACTN4 on the set of 48 patients with nephrotic syndrome in this diploma thesis. High resolution melting (HRM) analysis and sequencing selected samples were used during this mutation detection. During this process many published and unpublished SNPs and one unpublished candidate mutation that could have causal associations with FSGS were found.
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Study of the variations in the expression of different adhesion and cytoskeletal proteins of podocytes (E-Cadherin, Podocin, Vimentin) due to Bisphenol A
Chvojanová, Zuzana ; Kovařík, Miroslav (advisor) ; Němečková, Ivana (referee)
Charles University, Faculty of Pharmacy in Hradec Králové, Department of Biological and Medical Sciences The University of Alcalá, Faculty of Medicine, Department of biomedicine and biotechnology Student: Zuzana Chvojanová Supervisor: PharmDr. Miroslav Kovařík, Ph.D. Consultant: María Isabel Arenas Jimenéz Title of the diploma thesis: Study of the variations in the expression of different adhesion and cytoskeletal proteins of podocytes (E-Cadherin, Podocin, Vimentin) due to Bisphenol A Bisphenol A (BPA) is one of the most widespread compounds in the world, producing over 6 billion metric tons per year. It is widely used as part of polycarbonate plastics and epoxy resins, from which reusable plastic bottles, food boxes and some medical equipment are made. It is also used to coat the inner layer of the cans. Previous studies have shown that BPA contributes to many chronic diseases in the human body, such as kidney disease - diabetic nephropathy. Podocytes - terminally differentiated cells of the Bowman's capsule in glomerulus - are an integral part of the filtration barrier, where they play an important role in preventing the plasmatic proteins from penetrating to the urine. Therefore, in this study, we looked at the effect of BPA on these cells and their particular proteins, using both in vivo and...
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Study of the variations in the expression of different adhesion and cytoskeletal proteins of podocytes (E-Cadherin, Podocin, Vimentin) due to Bisphenol A
Chvojanová, Zuzana ; Kovařík, Miroslav (advisor) ; Němečková, Ivana (referee)
Charles University, Faculty of Pharmacy in Hradec Králové, Department of Biological and Medical Sciences The University of Alcalá, Faculty of Medicine, Department of biomedicine and biotechnology Student: Zuzana Chvojanová Supervisor: PharmDr. Miroslav Kovařík, Ph.D. Consultant: María Isabel Arenas Jimenéz Title of the diploma thesis: Study of the variations in the expression of different adhesion and cytoskeletal proteins of podocytes (E-Cadherin, Podocin, Vimentin) due to Bisphenol A Bisphenol A (BPA) is one of the most widespread compounds in the world, producing over 6 billion metric tons per year. It is widely used as part of polycarbonate plastics and epoxy resins, from which reusable plastic bottles, food boxes and some medical equipment are made. It is also used to coat the inner layer of the cans. Previous studies have shown that BPA contributes to many chronic diseases in the human body, such as kidney disease - diabetic nephropathy. Podocytes - terminally differentiated cells of the Bowman's capsule in glomerulus - are an integral part of the filtration barrier, where they play an important role in preventing the plasmatic proteins from penetrating to the urine. Therefore, in this study, we looked at the effect of BPA on these cells and their particular proteins, using both in vivo and...
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|
Genetic factors affecting course of selected forms of nephrotic syndrome
Šafaříková, Markéta ; Štekrová, Jitka (advisor) ; Král, Jiří (referee)
Nephrotic syndrome (NS) is characterized by proteinuria, hypalbuminemia and edemas. It occurs during first and second glomerulopathies. This disease can be divided into two groups: primary (idiopathic) and secondary. The heredity of the familial nephrotic syndrome is autosomal dominant and autosomal recessive. There are four most important genes that condition the formation of hereditary nephrotic syndrome in adult patienst. These genes are ACTN4, CD2AP, NPHS2 and TRPC6. The gene ACTN4, which encodes protein α-actinin 4, is responsible for the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). FSGS is included in first glomerulopathies. α-Actinin 4 was also researched for some types of carcinomas. There was performed the mutational analysis of the gene ACTN4 on the set of 48 patients with nephrotic syndrome in this diploma thesis. High resolution melting (HRM) analysis and sequencing selected samples were used during this mutation detection. During this process many published and unpublished SNPs and one unpublished candidate mutation that could have causal associations with FSGS were found.
|
|
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Mutational analysis of the TRPC6 gene in patients with nephrotic syndrome
Obeidová, Lena ; Reiterová, Jana (advisor) ; Schierová, Michaela (referee)
Focal segmental glomerulosclerosis is one of the commonest cause of the nephrotic syndrome in adults patients. It is a damage of glomerulus characterized by leakage of proteins to urine and oedemas which usually develops into the end-stage renal disease within 10 years. Recently have been described familial forms of this disease which arise from injury to proteins making up filtration barrier of kidney. In 2005 non-selective ion channel TRPC6 was assigned among these proteins. In this thesis I focused on summarizing existing knowledge of the nephrotic syndrome, focal segmental glomerulosclerosis and involvement of TRPC6 in their origin. Second part of this work is devoted to the screening analysis of TRPC6 gene to discover possible mutations and polymorfisms in 47 patients with histologically proven focal segmental glomerulosclerosis or minimal change disease. The used methods were high resolution melting and direct sequencing. In the group of patients was detected no pathogenic mutation, only 2 known polymorfisms P15S and A404V and few changes which do not result in alteration of amino acid. So it seems TRPC6 gene mutations are a rare cause of the focal segmental glomerulosclerosis in adult patients in the Czech Republic.
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