Getting behind the genetics of high-altitude adjustments

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People who both travel to and live at high altitudes typically cope with lower oxygen levels by increasing red blood cell production, which can help get more oxygenated blood to organs and tissues. But the increase in red blood cells also makes blood thicker, stickier, and more difficult to pump, putting a strain on the cardiovascular system and leading to health issues, including heart failure and high blood pressure.

The researchers studied a group of Andean highlanders who speak a language called Aymara and live at elevations topping 3,600 meters. “We can’t experiment genetically with humans, but nature has sometimes [done] experiments for us,” says coauthor Rasmus Nielsen.

[Nielsen’s team] sequenced the genomes of 42 Aymaras from Bolivia. They then searched for possible areas of natural selection: genomic regions that differ from those of both Europeans and Native Americans not living at high altitudes.

None of the most differentiated regions in Andean genomes were associated with the pathways that respond to low oxygen levels or regulate red blood cell numbers, Nielsen says. Instead, the authors theorize that the identified variants could potentially mitigate the negative effects of having extra red blood cells in another way: by modifying cardiovascular function and cardiac development.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: The Genetic Strategies of Dealing with High Altitude