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Evaluation of gene expression profile of endothelial progenitor cells of patients with sickle cell anemia and stroke

Grant number: 21/14089-0
Support Opportunities:Scholarships in Brazil - Master
Effective date (Start): August 01, 2022
Effective date (End): August 31, 2023
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Mônica Barbosa de Melo
Grantee:Júlia Nicoliello Pereira de Castro
Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Associated research grant:19/18886-1 - Pathophysiological mechanisms and treatment of red blood cell abnormalities, AP.TEM


Sickle cell anemia (SCA) is a hemoglobinopathy resulting from a homozygous mutation in the seventh codon of the beta-globin gene. However, there is extensive clinical variability, with systemic involvement. Neurological changes are common, and it has been related to the greater severity of the disease, being fatal in 15% of cases. Transient ischemic accidents, infarctions and cerebral hemorrhage can occur. Erythrocyte sickling is the primary event in the pathophysiology of the disease. Thus, there is a condition of vasculopathy, in which hemolysis, inflammation, endothelial activation and vasoconstriction contribute to ischemic accidents. In this context, the role of the vascular endothelium in the cascade of events that culminate in such phenotypic changes is emphasized. The analysis of gene expression of endothelial cells can provide a better understanding of the molecular pathways involved. In this study, we propose to investigate the differential expression of genes that may be associated with risk or protection against stroke. The analysis will be carried out using RNA samples extracted from Endothelial Colony Forming Cells (ECFCs) isolated from peripheral blood of four SCA patients with a clinical history of stroke and six SCA patients without stroke. The approach will rely on the application of the RNA-Seq technique to identify differentially expressed genes (DEGs), followed by analysis of gene ontology for biological process, protein-protein interaction networks and identification of relevant genes in the network structure and, therefore, with biological relevance, followed by the identifcation of miRNAs and other regulatory factors. A better understanding of the biological pathways involved in stroke in SCA may contribute to the search for new preventive strategies, as well as new therapeutic approaches for affected patients. (AU)

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