In a study published in PNAS, researchers investigated how mice with lower levels of the endothelin receptor type B (EDNRB) gene - a gene that is present among Ethiopians, who evolved to live at high elevations where oxygen levels are low - fare in hypoxic conditions. It found that even with five percent oxygen, lower than you’d find atop Mount Everest, the mice with the gene alteration survived. They managed to get oxygen to their vital organs with the help of several "downstream" genes that are regulated by EDNRB.
According to a press release, these three heart-specific genes "help heart cells perform crucial functions such as transport calcium and contract. The finding provides a direct molecular link between EDNRB levels and cardiovascular performance."
The implications of this work are described in the release by senior author Gabriel Haddad, MD, professor and chair of pediatrics at UC San Diego School of Medicine: “In addition to improving the health of the more than 140 million people living above 8,000 feet, information on how Ethiopians have adapted to high altitude life might help us develop new and better therapies for low oxygen-related diseases at sea level — heart attack and stroke, for example.” Haddad and his team are now testing therapeutic drugs that inhibit ENDRB.
Previously: Near approval: A stem cell gene therapy developed by Stanford researcher, Using genetics to answer fundamental questions in biology, medicine, and anthropology and "It's not just science fiction anymore": ChildX researchers talk stem cell and gene therapy
Photo by mariusz klozniak