Profile of genetic polymorphisms in patients with renal lithiasis and cystinuria

• Grant number: 13/17034-5
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2014
• End date: August 31, 2016
• Field of knowledge: Health Sciences - Medicine - Surgery
• Principal Investigator: Eduardo Mazzucchi
• Grantee: Eduardo Mazzucchi
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Kátia Ramos Moreira Leite ; Miguel Srougi ; Sabrina Thalita dos Reis Faria

Abstract

Cystinuria is an autosomal recessive disease manifested in the formation of kidney stones by a defect in renal reabsorption of cystine and other dibasic amino acids arginine, lysine and ornitina.Sua classification is based on molecular analysis and not the amino acid profile in urine disease type A, arising from mutations in the SLC3A1 gene; type B gene SLC7A9, AB type, due to mutations in both genes.Considerando that many studies on the sum of the rates of mutations in SLC3A1 and SLC7A9 not reach 100%, and due to the complex nature of renal transport of amino acids, the role of genes, and additional mutations in the etiology of cystinuria have been postulated. Additionally, the role of existing mutations already described differs according to the location of the population studied. Based on the above, the aim of our study consists in mapping genetic mutations in Brazilian families who have cystinuria and renal calculi in order to validate internally mutations described above and search for new ones that may be associated with this disease in our population. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

REIS, SABRINA T.; LEITE, KATIA R. M.; MARCHINI, GIOVANNI S.; GUIMARAES, RONALDO M.; VIANA, NAYARA I.; PIMENTA, RUAN C. A.; TORRICELLI, FABIO C.; DANILOVIC, ALEXANDRE; VICENTINI, FABIO CARVALHO; NAHAS, WILLIAM CARLOS; et al. Polymorphism in the PBX1 gene is related to cystinuria in Brazilian families. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, v. 23, n. 2, p. 1593-1597, FEB 2019. (13/17034-5)

REIS, SABRINA; GUIMARAES, RONALDO; VIANA, NAYARA; LEITE, KATIA; MARCHINI, GIOVANNI; TORRICELLI, FABIO; NAHAS, WILLIAM; SROUGI, MIGUEL; MAZZUCCHI, EDUARDO. SNP RS17383719 IN THE PBX1 GENE IS ASSOCIATED WITH CYSTINURIA. JOURNAL OF UROLOGY, v. 197, n. 4, p. 1-pg., 2017-04-01. (13/17034-5)