'Age-old genetic mutation helps Tibetans adapt to high altitude'

  • HT Correspondent, Hindustan Times, Dharamasala
  • Updated: Aug 21, 2014 18:56 IST

A genetic mutation that took place around 8,000 years ago helped Tibetans to adapt to and thrive at high altitudes, a research study has found.

"A new study has shown how mutation of a gene 8,000 years ago helped Tibetans to thrive at high altitudes," said a post on the official website of Central Tibetan Administration (CTA).

Citing the research study titled 'A genetic mechanism for Tibetan high-altitude adaptation' published in Nature Genetic, the CTA said that a gene, EGLN1, changed by a single DNA base pair.

"Today, a relatively short time later on the scale of human history, the vast majority of Tibetans -- 88 per cent -- have the genetic variation, and it is virtually absent from closely-related lowland Asians," says the post quoting senior author of the research paper, Joseph Prchal, a University of Utah professor of internal medicine.

The researchers see these findings help us understand the unique aspects of Tibetan adaptation to high altitudes, and to better understand human evolution.

For his research, Prchal enlisted the help of native Tibetan scientist Tsewang Tashi, an author and clinical fellow at the Huntsman Cancer Institute at the University of Utah.

More than 90 Tibetans, both from the US and abroad, volunteered for the study. The researcher collaborated with researchers throughout the world to determine that the newly identified genetic variation protects Tibetans by decreasing an aversive over-response to low oxygen.

"In those without the adaptation, the thin air causes their blood to become thick with oxygen-carrying red blood cells, often causing long-term complications such as heart failure," says the post quoting the study and adds that the EGLN1 variation, together with other unidentified genetic changes, collectively help Tibetans to survive at high altitudes.

The research also has broader implications in the sense that as 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 conditions, including cancer. "There is much more that needs to be done, and this is just the beginning," says CTA quoting the scientists.

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