Scientists ID Genes Behind Chronic Mountain Sickness08/15/13
THURSDAY, Aug. 15 (HealthDay News) -- People who live at high
altitudes and suffer from chronic mountain sickness may have their
genes to thank, a new study finds.
About 140 million people worldwide live permanently at high
altitudes, where oxygen levels are low. Many of them have adapted
to their environment, but others have chronic mountain sickness,
characterized by heart attacks, strokes and lung problems at an
The new findings could point the way toward treating the
condition, researchers say.
Chronic mountain sickness develops over time. It differs from
acute mountain sickness, or altitude sickness, which usually
strikes people within hours of reaching high altitude, often
causing nausea, vomiting or headaches.
In this study, the researchers sequenced the entire genomes of
20 people living in the Andes, 10 with chronic mountain sickness
and 10 without. The investigators found greater expression of two
genes -- the blood cell regulator SENP1 and the cancer-associated
gene ANP32D -- in people with chronic mountain sickness than in
Reducing the expression of these two genes improved survival
under low-oxygen conditions both in flies and in human cells,
according to the study published Aug. 15 in the
American Journal of Human Genetics.
"We showed that the genes that were identified by the whole-genome scan were actually linked causally to sickness in low-oxygen environments," study co-senior author Dr. Gabriel Haddad, of the University of California, San Diego, said in a journal news release.
"With further study, the two genes we identified and validated may become potential drug targets for treating conditions related to low oxygen levels, such as strokes and heart attacks. In addition, they may also be considered as targets for a potential drug treatment for chronic mountain sickness," Haddad said.
The U.S. National Library of Medicine has more about
Copyright © 2013
. All rights reserved.
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.