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RNA-seq technique application in endothelial and leukocyte cells transcription profile evaluation in sickle cell retinopathy

Grant number: 15/14255-6
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): September 01, 2015
Effective date (End): August 31, 2019
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Mônica Barbosa de Melo
Grantee:Sueli Matilde da Silva Costa
Home Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Associated research grant:14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches, AP.TEM

Abstract

Although sickle cell anemia (SCA) resulting from homozygosity for a single mutation at position 6 of the ²-hemoglobin locus, phenotypically this disease is very heterogeneous, so that different patients may have significantly different clinical outcomes. The compound heterozygous with other hemoglobin variants also modulates the polymerization of HbS, and the hemoglobin C (HbC) structural variant most frequently found in conjunction with HbS (²S²C). This genotype are relatively benign condition, but more likely to develop thromboembolic complications, retinopathy and renal papillary necrosis. The latter is triggered by vaso-occlusion of ocular microvasculature and may lead to visual impairment in 10 to 20% of affected eyes. Spontaneous regression of neovascularization has been reported in 20 to 60% of cases. The precise cause of the formation of new vessels in sickle cell disease is not fully understood, so that retinopathy these individuals offers a thought-provoking study model of its connection with a softer systemically genotype ²S²C, and the common property regress spontaneously. The RNA-seq is a promising technique for the determination of the tissue specific transcriptional profile, allowing not only to characterize protein-encoding transcripts, but also a series of regulatory RNAs. The main motivation of this study is the characterization of gene expression between the major cell types involved in retinopathy of individuals with genotype ²S²C.