Scientists Discover Genetic Adaptation for High Altitudes: Treatment for CMS

High altitudes can wear on a body, causing fatigue and chronic mountain sickness (CMS). Yet some people can adapt to these high altitudes more easily than others. Now, scientists may have found a way to help those that suffer from the condition. They've discovered the genetic basis of CMS, which may result in better treatments.

More than 140 million people have permanently settled on high-altitude regions. There, they have to cope with low levels of oxygen in their blood due to the thinner atmosphere. Some people that live at these altitudes, though, suffer from CMS. This disease is characterized by an array of neurologic symptoms, including headache, fatigue, sleepiness and depression. Those that suffer from CMS also sometimes also suffer strokes or heart attacks. Needless to say, finding better ways to treat CMS would greatly benefit those that live at high altitudes.

In order to learn a bit more about CMS, the scientists dissected the genetic mechanisms underlying high-altitude adaptation by comparing genetic variation between Peruvian individuals from the Andes region with CMS and adapted subjects without CMS by using whole genome sequencing. In the end, the researchers identified two genes, ANP32D and SENP1, with significantly increased expression in the CMS individuals. It's very possible that down-regulating these genes could help in coping with hypoxia.

In order to investigate the matter a bit further, the researchers then looked at genetic orthologs, which are corresponding gene sequences from another species. In this case, they examined the fruit fly.

"We found that fruit flies with these genes down-regulated had a remarkably enhanced survival rate under hypoxia," said Gabriel Haddad, one of the researchers, in a news release.

Currently, researchers plan to sequence the whole genomes for the almost 100 remaining patient samples to test if biomarkers exist to predict CMS. The findings could allow researchers to eventually develop new treatments for this disease.

The findings are published in The American Journal of Human Genetics.