Genetics of hereditary angioedema

• Grant number: 13/02661-4
• Support Opportunities: Regular Research Grants
• Start date: August 01, 2013
• End date: 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
• City of the host institution: São Paulo

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)

Scientific publications

(7)

(The scientific publications listed on this page originate from the Web of Science or SciELO databases. Their authors have cited FAPESP grant or fellowship project numbers awarded to Principal Investigators or Fellowship Recipients, whether or not they are among the authors. This information is collected automatically and retrieved directly from those bibliometric databases.)

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, MAR 2019. (11/24142-3, 13/02661-4)

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+, JUN 2021. (13/02661-4, 15/25494-1, 14/27198-8)

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, JUN 2017. (13/02661-4, 11/24142-3)

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+, JUL-AUG 2018. (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, FEB 21 2019. (15/25494-1, 13/02661-4, 14/27198-8)

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, JAN 2016. (13/02661-4)

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, APR 17 2019. (15/25494-1, 13/02661-4, 14/27198-8)