Over millenia, humans have adapted to the high altitude of Ethiopia’s highlands. Researchers have now pinpointed one adaptation — lower levels of cardiac signaling protein — that may make the high life possible.
By Helen Thompson |
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.
Source: Science News
Publications cited on this report:
- Stobdan T, Zhou D, Ao-Ieong E, Ortiz D, Ronen R, Hartley I, et al. Endothelin receptor B, a candidate gene from human studies at high altitude, improves cardiac tolerance to hypoxia in genetically engineered heterozygote mice. Proc Natl Acad Sci U S A 2015.
- Udpa N, Ronen R, Zhou D, Liang J, Stobdan T, Appenzeller O, et al. Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes. Genome Biol 2014;15(2):R36.