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8,000-year-old mutation key to human life at high altitudes
Date:8/17/2014

to penetrate. His hard work was worth it, for the Tibetans' DNA had a fascinating tale to tell. About 8,000 years ago, the gene EGLN1 changed by a single DNA base pair. Today, a relatively short time later on the scale of human history, 88% of Tibetans have the genetic variation, and it is virtually absent from closely related lowland Asians. The findings indicate the genetic variation endows its carriers with an advantage.

Prchal, collaborated with experts throughout the world, to determine what that advantage is. In those without the adaptation, low oxygen causes their blood to become thick with oxygen-carrying red blood cells - an attempt to feed starved tissues - which can cause long-term complications such as heart failure. The researchers found that the newly identified genetic variation protects Tibetans by decreasing the over-response to low oxygen.

These discoveries are but one chapter in a much larger story. The genetic adaptation likely causes other changes to the body that have yet to be understood. Plus, it is one of many as of yet unidentified genetic changes that collectively support life at high altitudes.

Prchal says the implications of the research extend beyond human evolution. Because oxygen plays a central role in human physiology and disease, a deep understanding of how high altitude adaptations work may lead to novel treatments for various diseases, including cancer. "There is much more that needs to be done, and this is just the beginning," he said.

At the beginning of the project, while in Asia, Prchal was amazed at how Tashi was able to establish a common ground with Tibetans. He helped them realize they had something unique to contribute. "When I tell my fellow Tibetans, 'Unlike other people, Tibetans can adapt better to living at high altitude,' they usually respond by a little initial surprise quickly followed by agreement," Tashi explained.

"Its as if I made them realize something new, which only then bec
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Contact: Julie Kiefer
jkiefer@neuro.utah.edu
801-597-4258
University of Utah Health Sciences
Source:Eurekalert  

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