At high altitudes, the reduced oxygen in the air makes some people develop a condition called hypoxia. But the thousands of people who live 3,500 meters above sea level in the Ethiopian highlands don’t seem to get sick. A key genetic adaptation may have helped them live for millenia at high altitudes, researchers report August 3 in the Proceedings of the National Academy of Sciences.
Previously, a search for irregularities in highlanders’ genomes flagged mutations around a gene that builds a signaling protein called endothelin receptor type B, or ERTB. In the new study, mice with lower levels of ERTB still manage to get oxygen to vital organs with help from a trio of other genes that regulate blood pumping and circulation.
The findings could help provide better treatments for hypoxia — whether it’s down at sea level or high up in the hills of Ethiopia.