RESUMO
Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. A causative gene for this disease, NPHS2, was mapped to 1q25-31 and we report here its identification by positional cloning. NPHS2 is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family. We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.
Assuntos
Proteínas de Caenorhabditis elegans , Glomérulos Renais/metabolismo , Proteínas de Membrana/genética , Mutação/genética , Síndrome Nefrótica/genética , Animais , Proteínas Sanguíneas/genética , Caenorhabditis elegans , Clonagem Molecular , Análise Mutacional de DNA , Etiquetas de Sequências Expressas , Feto , Genes Recessivos , Ligação Genética , Proteínas de Helminto/genética , Humanos , Hibridização In Situ , Peptídeos e Proteínas de Sinalização Intracelular , Glomérulos Renais/embriologia , Dados de Sequência Molecular , Família Multigênica , Síndrome Nefrótica/metabolismo , Especificidade de Órgãos , Linhagem , Mapeamento Físico do Cromossomo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Homologia de Sequência de AminoácidosRESUMO
The authors studied the total dust formation resulting from handling of same alginate materials to estimate the health hazard for the odontoiatric workers. Some new alginate materials resulted less dusty, even though keeping a potential dangerousness because the their high contents of crystobalite.