title: TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease.
abstract: Blood filtration and formation of primary           urine in the kidney glomerulus is provided by a specialized           membrane called slit diaphragm located between           well-branched pedicels of podocytes. Actually,           the slit diaphragm is a protein supercomplex, whose           disruption can cause failure of renal filtration, and           patients usually manifest nephrotic syndrome.           Recently, familial forms of nephrotic syndrome have           been described which arise from malfunction of mutated           proteins making up the slit diaphragm. In 2005           it was found that one of the proteins present in this           complex was non-selective cation channel TRPC6.           The aim of this work was to screen mutations and           polymorphisms of the TRPC6 gene in a group of 64           Czech patients with nephrotic syndrome and subsequently,           on the basis of these data, evaluate the role           of mutations in the TRPC6 gene in Czech population.           The analysis was performed by the PCR method followed           by direct sequencing and high-resolution melting           method. We have not identified any mutations in           our group of patients. Two additional single nucleotide           polymorphisms - p.P15S and p.A404V - were           detected along with nucleotide changes that did not           result in amino acid changes and with a few intronic           changes. P.P15S heterozygotes were more frequent           in patients with steroid-resistant FSGS than in steroid-           sensitive patients (29 % versus 12.1 %). To conclude,           we did not find any probable disease-causing           mutation in the TRPC6 gene in the cohort of 64           Czech patients. The p.P15S polymorphism might           have some influence on the therapeutic response of           FSGS patients.
authors.affiliation: Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
authors.forename: L
authors.initials: L
authors.lastname: Obeidová
authors.forename: J
authors.initials: J
authors.lastname: Reiterová
authors.forename: P
authors.initials: P
authors.lastname: Lněnička
authors.forename: J
authors.initials: J
authors.lastname: Štekrová
authors.forename: H
authors.initials: H
authors.lastname: Šafránková
authors.forename: M
authors.initials: M
authors.lastname: Kohoutová
authors.forename: V
authors.initials: V
authors.lastname: Tesař
mesh_terms: D000328:Adult; D018153:Czech Republic; D004252:DNA Mutational Analysis; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009402:Nephrosis, Lipoid / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D050052:TRPC Cation Channels / Q000235:genetics*; D000074287:TRPC6 Cation Channel; D055815:Young Adult
chemical_list: D050052:TRPC Cation Channels; D000074287:TRPC6 Cation Channel; C117032:TRPC6 protein, human