Low Oxygen Response: Genetic Influence
- Pittsburgh — A team at the University of Pittsburgh Schools of Medicine has pinpointed a key mechanism governing the body's response to low oxygen levels, which impacts blood...
- By analyzing the genomes of more than 20,000 individuals from the U.S., France, England, and Japan, coupled wiht lab studies, the scientists discovered a common genetic marker.
- The research focused on identifying a gene pair that plays a crucial role in regulating blood vessel metabolism.
Pitt researchers have uncovered a significant genetic link to pulmonary hypertension, offering new hope for tailored treatments. The study, analyzing over 20,000 genomes, identified a genetic marker that predicts a higher risk of this serious lung condition. This revelation, published in science Translational Medicine, may revolutionize how we approach pulmonary hypertension. The research focuses on how the body responds to low oxygen levels, targeting specific genes that regulate blood vessel metabolism. This groundbreaking finding possibly influences the progress of future drug therapies. With a special thanks to News Directory 3 for the great resource, these advancements hold promise for personalized medicine practices. chan hopes this discovery will accelerate treatments for oxygen sensitivity in blood vessels.Discover what’s next in pulmonary hypertension treatments.
Genetic Trait Linked to Pulmonary Hypertension Discovered by Pitt Researchers
Updated June 16, 2025
Pittsburgh — A team at the University of Pittsburgh Schools of Medicine has pinpointed a key mechanism governing the body’s response to low oxygen levels, which impacts blood vessel disease in the lungs. Their research offers new insights into pulmonary hypertension, a serious condition marked by high blood pressure in the lung arteries.
By analyzing the genomes of more than 20,000 individuals from the U.S., France, England, and Japan, coupled wiht lab studies, the scientists discovered a common genetic marker. This marker can predict a higher risk for pulmonary hypertension and its more severe form, pulmonary arterial hypertension. The discovery may also influence the progress of new drug therapies targeting the body’s reaction to oxygen deprivation. The findings were published in Science Translational Medicine.
The research focused on identifying a gene pair that plays a crucial role in regulating blood vessel metabolism. This gene pair, including a non-coding RNA molecule and a protein partner, showed increased activity in cells exposed to low oxygen.A single DNA letter change affecting the expression of this RNA-protein pair under low oxygen conditions was linked to a higher genetic risk of pulmonary hypertension across diverse populations.
Stephen Chan, M.D., Ph.D., a cardiologist and director of the Vascular Medicine Institute at Pitt, emphasized the potential of this discovery.”This new level of knowledge will help identify people who might potentially be at a higher genetic risk of pulmonary hypertension and jump-start precision medicine practices to offer customized treatments,” chan said.
Pulmonary hypertension, a chronic and potentially fatal disease, results in decreased oxygen supply to the lungs and blood. Its molecular origins and genetic underpinnings have remained largely unknown. The Pitt team collaborated with researchers worldwide and utilized public datasets, including the National Institutes of Health’s All of Us health registry, to ensure the findings’ relevance across diverse global populations.
What’s next
Chan hopes the findings will encourage the development of targeted therapies addressing oxygen sensitivity in blood vessel linings. He also anticipates that their pending patent request will contribute to a new field of epigenetic and RNA drug therapeutics, which modify how the genome is read rather than manipulating the genome itself. This research into pulmonary hypertension and genetic risk factors could revolutionize treatment approaches.