Gene Identified That Plays Key Role in Human Adaptation to Low Oxygen, High Altitude

by Dr. Trupti Shirole on  August 4, 2015 at 5:15 PM Genetics & Stem Cells News
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A gene that helps people tolerate low-oxygen conditions has been identified by researchers. These findings open the way for new treatments for heart failure and related conditions.
 Gene Identified That Plays Key Role in Human Adaptation to Low Oxygen, High Altitude
Gene Identified That Plays Key Role in Human Adaptation to Low Oxygen, High Altitude

Lead author Gabriel Haddad, chair of the Department of Pediatrics at the University of California at San Diego, said, "This is the first demonstration that a gene involved in high altitude adaptation is critical in protecting cardiac function in moderate to severe hypoxia at sea level."

The researchers identified a gene, EDNRB, they believe may help Ethiopians who have lived at high altitudes, where oxygen levels are relatively low, for thousands of years. That gene encodes a protein that is believed to help blood vessels dilate.

For the study, researchers monitored the relative performance under hypoxic conditions of mice with normal levels of EDNRB and those with low levels. Mice with lower levels of EDNRB were better able to maintain normal heart rhythms, blood pressure and oxygen flow to vital organs, even when oxygen was below levels found at the summit of Mount Everest.

Haddad said, "Lowering EDNRB does wonders for mice when environmental oxygen levels are low, leading us to conclude that the EDNRB gene plays a key role in human adaptation to low oxygen and high altitude. This advance could help in the search for better therapies for those living at sea level who suffer from heart attacks, strokes and other low oxygen-related diseases."

The study is published in the Proceedings of the National Academy of Sciences.

Source: AFP

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