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Master's Dissertation
DOI
10.11606/D.17.2017.tde-07062017-103827
Document
Author
Full name
Gustavo Borges
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
Ribeirão Preto, 2016
Supervisor
Committee
Rodrigues, Rodrigo do Tocantins Calado de Saloma (President)
Lopes, Luiz Fernando
Silva Junior, Wilson Araújo da
Title in Portuguese
Mutações no gene GATA2 em pacientes com síndromes de falência medular
Keywords in Portuguese
Falências medulares
GATA2
MonoMAC
Abstract in Portuguese
Citopenia é um importante sinal de falência medular, sendo um achado comum de várias doenças, dentre as quais se destacam as mielodisplasias e a anemia aplástica. As mielodisplasias correspondem a um grupo de alterações hematopoéticas de natureza clonal, cuja principal característica é a hematopoese ineficaz, clinicamente manifesta como uma medula óssea celular, porém associada a citopenias. Já a anemia aplástica apresenta uma medula hipo ou acelular sem evidência de infiltração neoplásica, sendo substituída por tecido gorduroso. O gene GATA2 é um fator regulador da hematopoese, atuando também na manutenção e proliferação do pool de células-tronco e progenitoras hematopoéticas. Recentemente, mutações constitucionais no gene GATA2 foram descritas na síndrome de monocitopenia e infecção micobacteriana (MonoMac), que eventualmente cursa com outras citopenias, medula hipocelular ou mesmo mielodisplasia. Entretanto, a contribuição de mutações no gene GATA2 para o desenvolvimento de anemia aplástica adquirida e síndrome mielodisplásica não é conhecida. Neste trabalho, propomos pesquisar mutações no gene GATA2 em pacientes com anemia aplástica adquirida e síndrome mielodisplásica, por meio de sequenciamento direto do DNA. Adicionalmente, também avaliaremos as subpopulações linfocitárias no sangue periférico e níveis de citocinas plasmáticas no intuito de correlacionar a presença de mutação do GATA2 a um perfil imunológico.
Title in English
GATA2 gene mutation in patients with bone marrow failure syndromes
Keywords in English
bone marrow failure
GATA2
MonoMAC
Abstract in English
Cytopenia is an important signal of marrow failure, being commom to various diseases, among them myelodysplasia and aplastic anemia. Myelodysplasia is a group of hematopoietic clonal disorders, with inneficient hematopoiesis, cellular bone marrow with associated cytopenias. The aplastic anemia presents a hypo or even acellular bone marrow without any evidence of neoplastic infiltration with the stem cells being substituted by fat. The GATA2 gene is a key regulator of hematopoiesis, also acting on the maintenance and proliferation of stem and progenitor cells. Recently, constitutional mutations in the GATA2 gene were described in MonoMAC syndrome, which eventually presents cytopenias, hypocellular marrow or even myelodysplasia. However, the contribution of GATA2 mutations for the development of acquired aplastic anemia or myelodysplasia is not known. In this work we aim to search for GATA2 gene mutations in patients with acquired aplastic anemia and myelodysplasia through Sanger sequencing. Also, we will evaluate the levels of subpopulations of lymphocytes and the plasmatic levels of cytokines to establish a correlation between the presence of mutation in the GATA2 and a specific immune profile
 
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GUSTAVOBORGES.pdf (2.20 Mbytes)
Publishing Date
2017-11-13
 
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