In silico study of genetic mutations causing hereditary angioedema

• Grant number: 14/20965-3
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: January 01, 2015
• End date: May 31, 2018
• Field of knowledge: Biological Sciences - Biochemistry - Molecular Biology
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: João Bosco Pesquero
• Grantee: Renan Paulo Martin
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated research grant: 14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges, AP.TEM
• Associated scholarship(s): 16/23364-6 - Whole exome sequencing of patients with hereditary angioedema of unknown etiology, BE.EP.PD

Abstract

The studies of human genetics have been applied to better understand how differences of DNA sequence act on the natural physiology of each person triggering several genetic associated disorders to produce new treatment or prevention protocols. Based on the sequence of target genes involved on diagnosed disease it is possible to elucidate several control path of each mutation exert on its respective disease. Since this method provide many data, it is necessary the use of a computation analysis to interpolate the findings of each patient that led us to a better conclusion. Therefore, it is our interest to produce an analysis platform necessary to improve the collect data of each patient diagnosed with hereditary angioedema already studied by the group. Moreover it was already described several mutations on different components of this disease, thus it is necessary a deep approach on how those mutations affect the molecular function of each molecule, either protein or receptor molecules. Thus it is our interest to use molecular modeling and dynamics of nitric oxide synthase and B2 receptor, molecules involved on hereditary angioedema. All of these studies aims a better understanding of this disorder in order to provide a better diagnosis and a specific treatment to each diagnosed patient. (AU)

Scientific publications

(5)

(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)

MOTTA, FABIANA LOUISE; MARTIN, RENAN PAULO; FILIPPELLI-SILVA, RAFAEL; SALLES, MARIANA VALLIM; FERRAZ SALLUM, JULIANA MARIA. Relative frequency of inherited retinal dystrophies in Brazil. SCIENTIFIC REPORTS, v. 8, OCT 29 2018. (14/20965-3)

MARTIN, RENAN P.; FILIPPELLI-SILVA, RAFAEL; RODRIGUES, ELIETE S.; NAKAIE, CLOVIS R.; SHIMUTA, SUMA I.. A fluorimetric binding assay for angiotensin II and kinin receptors. JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS, v. 79, p. 55-59, MAY-JUN 2016. (07/56480-0, 11/02208-2, 14/20965-3)

MOTTA, FABIANA LOUISE; FILIPPELLI-SILVA, RAFAEL; KITAJIMA, JOAO PAULO; BATISTA, DENISE A.; WOHLER, ELIZABETH S.; SOBREIRA, NARA L.; MARTIN, RENAN PAULO; FERRAZ SALLUM, JULIANA MARIA. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis. OPHTHALMIC GENETICS, v. 42, n. 5, p. 553-560, SEP 3 2021. (14/20965-3)

MARTIN, RENAN PAULO; FILIPPELLI-SILVA, RAFAEL; SHUKLA, AK. Non-radioactive binding assay for bradykinin and angiotensin receptors. G PROTEIN-COUPLED RECEPTORS, PT B, v. 149, p. 9-pg., 2019-01-01. (07/56480-0, 11/02208-2, 14/20965-3)

MOTTA, FABIANA LOUISE; FILIPPELLI-SILVA, RAFAEL; KITAJIMA, JOAO PAULO; BATISTA, DENISE A.; WOHLER, ELIZABETH S.; SOBREIRA, NARA L.; MARTIN, RENAN PAULO; FERRAZ SALLUM, JULIANA MARIA. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis. OPHTHALMIC GENETICS, JUN 2021. (14/20965-3)