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Genetics of hereditary angioedema

Grant number: 13/02661-4
Support Opportunities:Regular Research Grants
Duration: August 01, 2013 - July 31, 2015
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:João Bosco Pesquero
Grantee:João Bosco Pesquero
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

The hereditary angioedema (HAE) is characterized by repetitive episodes of painful edemas and discomfort which affects mainly the upper and lower extremities, gastrointestinal tract, genitals and face, and it can lead to death by asphyxiation in swelling of upper respiratory tract. The HAE is an autosomal-dominant disorder resulting from mutations in the C1 inhibitor (C1INH) 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 of bradykinin (BK), the peptide responsible for edema. C1INH is the main physiologic inhibitor of the contact system, factor XII (FXII) and plasma kallikrein (huPK), which is responsible for BK release. The aim of this project is to standardize the sequencing of 16 target genes of HAE and to investigate the relationship between the mutations in these genes with the response to the standard treatment currently used in the clinics. Thus, genomic DNA will be extracted from HAE patients from peripheral blood cells and PCR will be performed with specifics oligonucleotides to the flanking regions of all exons and followed by sequencing in the last generation technique named IonTorrent. Plasma kallikrein, angiotensin converting enzyme, carboxipeptidase N and aminopeptidases activities will be analyzed by enzyme kinetics. The results of this project will help in the development of new HAE therapies and to determine patients with different responses to the standard treatment used in the clinics. (AU)

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Scientific publications (7)
(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; SERPA, FARADIBA SARQUIS; PESQUERO, JOAO BOSCO. A rare mutation in the F12 gene in a patient with ACE inhibitor-induced angioedema. ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, v. 118, n. 6, p. 743-745, . (13/02661-4, 11/24142-3)
GRUMACH, A. S.; STIEBER, C.; VERONEZ, C. L.; CAGINI, N.; CONSTANTINO-SILVA, R. N.; CORDEIRO, E.; NOETHEN, M. M.; PESQUERO, J. B.; CICHON, S.. Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema. ALLERGY, v. 71, n. 1, p. 119-123, . (13/02661-4)
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; et al. 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+, . (14/27198-8, 13/02661-4, 11/24142-3, 11/23439-2)
VERONEZ, CAMILA LOPES; AABOM, ANNE; MARTIN, RENAN PAULO; FILIPPELLI-SILVA, RAFAEL; GONCALVES, ROZANA FATIMA; NICOLICHT, PRISCILA; MENDES, AGATHA RIBEIRO; DA SILVA, JANE; GUILARTE, MAR; GRUMACH, ANETE SEVCIOVIC; et al. Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema. FRONTIERS IN MEDICINE, v. 6, . (15/25494-1, 13/02661-4, 14/27198-8)
VERONEZ, CAMILA LOPES; MENDES, AGATHA RIBEIRO; LEITE, CAROLINY SOUZA; GOMES, CAIO PEREZ; GRUMACH, ANETE SEVCIOVIC; PESQUERO, JOAO BOSCO; BRAZILI, HEREDITARY ANGIOEDEMA. The Panorama of Primary Angioedema in the Brazilian Population. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, v. 9, n. 6, p. 2293+, . (13/02661-4, 15/25494-1, 14/27198-8)
VERONEZ, CAMILA LOPES; CAMPOS, REGIS ALBUQUERQUE; CONSTANTINO-SILVA, ROSEMEIRE NAVICKAS; NICOLICHT, PRISCILA; PESQUERO, JOAO BOSCO; GRUMACH, ANETE SEVCIOVIC. Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review. FRONTIERS IN MEDICINE, v. 6, . (15/25494-1, 13/02661-4, 14/27198-8)
SERPA, FARADIBA SARQUIS; VERONEZ, CAMILA LOPES; CAMPINHOS, FERNANDA LUGAO; MOYSES, THEREZINHA RIBEIRO; PESQUERO, JOAO BOSCO. SERPING1 mutation in a rare hereditary angioedema with skin blisters. ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, v. 122, n. 3, p. 340-341, . (11/24142-3, 13/02661-4)

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