Clinical Significance
Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Overproduction of red blood cells increases a chance of adverse cardiovascular event, such as thrombosis and stroke.
Rarely, seemingly beneficial mutations in the EpoR may arise, where increased red blood cell number allows for improved oxygen delivery in athletic endurance events with no apparent adverse effects upon the athlete's health (as for example in the Finish athlete Eero Mäntyranta).
Erythropoietin is necessary to maintain endothelial cells and to promote tumor angiogenesis, hence the dysregulation of EpoR may affect the growth of certain tumors.
EpoR signaling prevents neuronal death and ischemic injury.
Read more about this topic: Erythropoietin Receptor
Famous quotes containing the word significance:
“For a parent, it’s hard to recognize the significance of your work when you’re immersed in the mundane details. Few of us, as we run the bath water or spread the peanut butter on the bread, proclaim proudly, “I’m making my contribution to the future of the planet.” But with the exception of global hunger, few jobs in the world of paychecks and promotions compare in significance to the job of parent.”
—Joyce Maynard (20th century)