Genetic Root Of Chronic Mountain Sickness Uncovered

Scientists have identified genetic mutations associated with chronic mountain sickness, or Monge’s disease, in Andean individuals.

Asian Scientist (Aug. 16, 2013) – An international team of scientists has analyzed the genomes of Andean individuals with chronic mountain sickness (CMS), or Monge’s disease to uncover genetic mutations associated with CMS.

There are approximately 140 million people living 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 pulmonary issues at an early age.

Now researchers report in the American Journal of Human Genetics that they have uncovered genes that play a role in causing this damage. These genes may be attractive targets for treatments against chronic mountain sickness and other conditions that involve oxygen deprivation.

To identify and characterize the genes that are involved in adaptation to high-altitude, low-oxygen environments, scientists sequenced the entire genomes of 20 individuals living in the Andes. Ten of these individuals had chronic mountain sickness while the other ten did not.

Through their analysis. the scientists discovered 11 genomic regions with significant differences between the two groups.

In these regions, two genes (a blood cell regulator, SENP1, and a cancer-associated gene, ANP32D) were expressed to a greater extent in individuals with chronic mountain sickness than in those without the condition in response to low oxygen levels.

The team also demonstrated that reducing the expression of these two genes improved survival under low-oxygen conditions both in flies and in human cells.

“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,” says Dr. Gabriel Haddad, co-senior author of the study.

The article can be found at: Zhou et al. (2013) Whole-Genome Sequencing Uncovers The Genetic Basis Of Chronic Mountain Sickness In Andean Highlanders.

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Source: Cell Press; Photo: dmerino13/Flickr/CC.
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