Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis

Autor(es)

Dinardo, Carla Luana ; Junior Lima Santos, Paulo Caleb ; Schettert, Isolmar Tadeu ; Gadi Soares, Renata Alonso ; Krieger, Jose Eduardo ; Pereira, Alexandre Costa

• Tipo de documento: Artigo Científico
• Fonte: GENETICS RESEARCH INTERNATIONAL; v. 2013, p. 4-pg., 2013-01-01.

Resumo

Background. Idiopathic erythrocytosis is the termreserved for cases with unexplained origins of abnormally increased hemoglobin after initial investigation. Extensive molecular investigation of genes associated with oxygen sensing and erythropoietin signaling pathways, in those cases, usually involves sequencing all of their exons and it may be time consuming. Aim. To performa strategy for molecular investigation of patients with idiopathic erythrocytosis regarding oxygen sensing and erythropoietin signaling pathways. Methods. Samples of patients with idiopathic erythrocytosis were evaluated for the EPOR, VHL, PHD2, and HIF-2 alpha genes using bidirectional sequencing of their hotspots. Results. One case was associated with HIF-2 alpha mutation. Sequencing did not identify any pathogenic mutation in 4 of 5 cases studied in any of the studied genes. Three known nonpathogenic polymorphisms were found (VHL p. P25L, rs35460768; HIF-2 alpha p. N636N, rs35606117; HIF-2 alpha p. P579P, rs184760160). Conclusion. Extensive molecular investigation of cases considered as idiopathic erythrocytosis does not frequently change the treatment of the patient. However, we propose a complementarymolecular investigation of those cases comprising genes associated with erythrocytosis phenotype to meet both academic and genetic counseling purposes. (AU)

• Processo FAPESP: 10/17881-1 - Avaliação farmacogenética para os genes CYP2C9 e VKORC1 em pacientes usuários de varfarina e em indivíduos da população geral brasileira
• Beneficiário: Renata Alonso Gadi Soares
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica
• Processo FAPESP: 13/20614-3 - Avaliação farmacogenética para fármacos do sistema cardiovascular com foco na implementação
• Beneficiário: Paulo Caleb Júnior de Lima Santos
• Modalidade de apoio: Bolsas no Brasil - Jovens Pesquisadores
• Processo FAPESP: 13/09295-3 - Avaliação farmacogenética para fármacos do sistema cardiovascular com foco na implementação
• Beneficiário: Paulo Caleb Júnior de Lima Santos
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores