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Plasma Kallikrein Role in Hereditary Angioedema: Genetics and Functional Analysis.

Grant number: 11/24142-3
Support type:Scholarships in Brazil - Doctorate
Effective date (Start): April 01, 2012
Effective date (End): June 30, 2016
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:João Bosco Pesquero
Grantee:Camila Lopes Veronez
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated scholarship(s):13/26117-1 - B2 kinin receptor overexpression rat as hereditary angioedema animal model, BE.EP.DR

Abstract

The hereditary angioedema (HAE) is characterized by repetitive episodes of painfuledemas and discomfort which affects mainly the upper and lower extremities, gastrointestinaltract, genitals and face, and it can lead to death by asphyxiation in swelling of upperrespiratory tract. The HAE is an autosomal-dominant disorder resulting from mutations in theC1 inhibitor that result in its abnormal levels or functionality (HAE Type I and II,respectively) or the result of other disorders (HAE Type 3) leading to an overproduction ofbradykinin (BK), the peptide responsible for edema. C1-INH is the main physiologic inhibitorof the contact system factor XII (FXII) and plasma kallikrein (huPK), which is responsible forBK release.The aim of this project is to study huPK role in HAE, analyzing its genetic andfunctional alterations in HAE patients, correlating with different patient's symptoms.Thus, genomic DNA will be extracted from peripheral blood cells of HAE patients andPCR will be performed with the flanking regions of all exons and RNA followed bysequencing. Other deletions and duplications will be analyzed by a MLPA-like technique.Protein structure and activity will be analyzed by immunoblotting and enzyme kinetics. Theresults of this project intend to clarify unknown mechanisms involving huPK activity in HAE,and can contribute to better understanding of this huPK role in other physiopathologysituations.

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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)
VERONEZ, CAMILA LOPES; MORENO, ADRIANA S.; CONSTANTINO-SILVA, ROSEMEIRE NAVICKAS; MAIA, LUANA S. M.; FERRIANI, MARIANA P. L.; CASTRO, FABIO F. M.; VALLE, SOLANGE RODRIGUES; NAKAMURA, VICTOR KOJI; CAGINI, NATHALIA; GONCALVES, ROZANA FATIMA; MANSOUR, ELI; SERPA, FARADIBA SARQUIS; COELHO DIAS, GABRIELA ANDRADE; PICCIRILLO, MIGUEL ALBERTO; TOLEDO, ELIANA; BERNARDES, MARLI DE SOUZA; CICHON, SVEN; STIEBER, CHRISTIANE; ARRUDA, L. KARLA; PESQUERO, JOAO BOSCO; GRUMACH, ANETE SEVCIOVIC. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, v. 6, n. 4, p. 1209+, JUL-AUG 2018. Web of Science Citations: 10.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.