Mutational analysis of GATA2 gene and immunological alterations in patientes with bone marrow failure

• Grant number: 14/26379-9
• Support Opportunities: Scholarships in Brazil - Master
• Start date: April 01, 2015
• End date: September 30, 2016
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: Rodrigo do Tocantins Calado de Saloma Rodrigues
• Grantee: Gustavo Borges
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
• Associated research grant: 13/08135-2 - CTC - Center for Cell-Based Therapy, AP.CEPID

Abstract

Cytopenia is an important indicator of bone marrow failure being common among various disease, specially myelodysplasia and aplastic anemia. Myelodysplasia correspond to a group of clonal marrow disorders, characterized by ineffective hematopoiesis. An important clinical manifestation is a normocellular bone marrow associated with cytopenias. In contrast, aplastic anemia is characterized by a hypocellular bone marrow without neoplastic infiltration and increase in reticulin. The GATA2 gene is a key regulator of hematopoiesis acting on the maintenance of hematopoietic progenitors and stem cell pool. Recently, constitutional mutations in GATA2 gene were described in MonoMac syndrome. This syndrome, eventually, presents cytopenias, hypocellular marrow or even myelodysplasia. However, the contribution of GATA2 mutations on acquired aplastic anemia and myelodysplastic syndrome is not known. In this work is proposed search for mutations on GATA2 gene in patients with acquired aplastic anemia or myelodysplastic syndrome by direct sequencing of DNA. Additionally will be also evaluated the lymphocytic subpopulations in peripheral blood and cytokines levels to correlate with the presence of a GATA2 mutation to an immune profile. (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)

MENDES-DE-ALMEIDA, DANIELA PALHEIRO; ANDRADE, FRANCIANNE GOMES; BORGES, GUSTAVO; DOS SANTOS-BUENO, FILIPE V.; VIEIRA, IRACEMA F.; DA ROCHA, LUANA KELLY M. DA S.; MENDES-DA-CRUZ, DANIELLA A.; ZANCOPE-OLIVEIRA, ROSELY M.; CALADO, RODRIGO T.; POMBO-DE-OLIVEIRA, MARIA S.. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. BMC MEDICAL GENETICS, v. 20, APR 29 2019. (14/26379-9, 13/08135-2)

GUTIERREZ-RODRIGUES, FERNANDA; MUNGER, ERIC; MA, XIAOYANG; GROARKE, EMMA M.; TANG, YOUBAO; PATEL, BHAVISHA A.; CATTO, LUIZ FERNANDO B.; V. CLE, DIEGO; NIEWISCH, MARENA R.; ALVES-PAIVA, RAQUEL M.; et al. Differential diagnosis of bone marrow failure syndromes guided by machine learning. Blood, v. 141, n. 17, p. 14-pg., 2023-04-27. (16/12799-1, 13/08135-2, 17/09428-4, 14/26379-9, 16/03620-8)

CATTO, LUIZ FERNANDO B.; BORGES, GUSTAVO; PINTO, ANDRE L.; CLE, DIEGO V.; CHAHUD, FERNANDO; SANTANA, BARBARA A.; DONAIRES, FLAVIA S.; CALADO, RODRIGO T.. Somatic genetic rescue in hematopoietic cells in GATA2 deficiency. Blood, v. 136, n. 8, p. 1002-1005, AUG 20 2020. (14/26379-9, 13/08135-2, 17/09428-4)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

BORGES, Gustavo. GATA2 gene mutation in patients with bone marrow failure syndromes. 2016. Master's Dissertation - Universidade de São Paulo (USP). Faculdade de Medicina de Ribeirão Preto (PCARP/BC) Ribeirão Preto.