| Grant number: | 12/51109-0 |
| Support Opportunities: | Regular Research Grants |
| Start date: | December 01, 2012 |
| End date: | November 30, 2015 |
| Field of knowledge: | Health Sciences - Medicine - Medical Clinics |
| Principal Investigator: | Maricilda Palandi de Mello |
| Grantee: | Maricilda Palandi de Mello |
| Host Institution: | Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil |
Abstract
The nephrotic syndrome is a non-specific disease that affects the kidneys causing protein loss. It is usually classified as congenital nephrotic syndrome with manifestation during the first three months of life, Infant nephrotic syndrome, during the first year of life, and Idiopathic when symptoms are later and with an undefined etiology. The SN is also classified as steroid-sensitive, steroid-resistant and steroid-dependent, according to the therapeutic response to glucocorticoids. The main cause of the clinical manifestations is the disfunction in the renal glomerular filtration barrier leading to a massive loss of essential proteins in the urine. GFB is the structure responsible for the main function of the kidneys, ie, ultrafiltration of the plasma during the formation of urine, and separates the bloodstream from the urinary space. Several genes that encode proteins to be expressed in GFB structures have been linked to genetic forms of NS in children, most importantly three genes: NPHS1, NPHS2 and WT1. Children with specific mutations in the gene NPHS1 manifest a form of CNS called Finnish type. In addition to mutations throughout the NPHS1 gene as a cause for CNS in children of Central Europe, the identification of mutations in the gene NPHS2 has been relatively often as well, emphasizing the need to include it in molecular studies involving different group of patients. Mutations in NPHS2 are responsible for most cases of INS and IDNS, in particular those corticosteroid resistant. It is estimated that mutations in WT1 gene are identified in approximately 9% of CRNS sporadic cases however, mutations in NPHS1 gene have been recently found in some cases, giving evidences for the genotype heterogeneity found in this syndrome and for the need for molecular analysis involving these three genes in the different forms of the NS. Molecular studies in patients with NS are not common in Brazil, so this project proposes, at first, the screening of mutations in NPHS1, NPHS2 and WT1 genes in a group of patients with nephrotic syndrome to assess the frequency of nucleotide changes in those patients and, secondly, to establish a correlation of molecular findings with different forms of the disease. If potentially deleterious changes were identified, we will also investigate its effect on biological function of the corresponding gene. (AU)
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