Utah research: Genetics help Tibetans thrive more than 2 miles in the sky
Posted: August 17, 2014 at 11:41 pm
(Rick Egan | The Salt Lake Tribune) Donald A. McClain, endocrinologist and a professor of internal medicine, Josef Prchal, a professor of internal medicine at the U. School of Medicine, and Tsewang Tashi, a Tibetan who is a hematologist and researcher at the Huntsman Cancer Institute, in Prchal's lab at the University of Utah Medical Center, Friday, August 15, 2014. University of Utah scientists are the lead researchers on a study publishing Sunday in the journal Nature Genetics. The study concludes that Tibetans who thrive in the thin air of the Tibetan Plateau (average elevation 14,800) do so because of a genetic mutation 8,000 years ago.
Genetics A mutation 8,000 years ago made them fit for high areas.
Thriving at high altitude, where most mortals suffer from oxygen deprivation? Theres a gene for that.
A study led by University of Utah researchers has identified for the first time the genetic reason Tibetans can live without medical complications on the Tibetan Plateau, which has an average elevation of 14,800 feet.
The results of the study, led by senior author Josef Prchal, an internist and hematologist at the U., were published online Sunday in the journal Nature Genetics.
By taking blood samples from 26 Tibetans living in Utah and Virginia as well as dozens more from Tibetans and other Asians living in China and India they found the gene EGLN1 changed by a single DNA base pair.
Lowlanders who lack the genetic mutation suffer in thin air because their blood becomes thick with oxygen-carrying red blood cells in an attempt to feed oxygen-starved tissues. That can lead to long-term complications such as acute mountain sickness or heart failure, Prchal said.
But Tibetans bodies do not react to high altitude by producing extra red blood vessels.
The mutation apparently began 8,000 years ago and "spread like fire" through the population, he said. Those who had it thrived and, by natural selection, their offspring did, too.
Today, 88 percent of Tibetans have the genetic variation, but it is virtually absent in closely related lowland Asians, the study found.
Original post:
Utah research: Genetics help Tibetans thrive more than 2 miles in the sky