Loading...
Chuvash polycythemia results from a mutation in the von Hippel-Lindau (VHL) gene that enables hypoxia-inducible factor (HIF) to avoid destruction and to drive expression of the erythropoietin gene, resulting in erythrocytosis. Other HIF target genes are glucose transporter member 1 (GLUT1) and vascular endothelial growth factor (VEGF). Patients with Chuvash polycythemia have greatly increased pulmonary and cardiac responses to acute hypoxia as well as premature mortality from cerebral vascular events and peripheral vascular thromboses. Now, investigators in the Netherlands and Austria have generated a zebrafish model that reproduces many manifestations of Chuvash polycythemia, including erythrocytosis and cardiopulmonary responses to hypoxi…