Published on August 16, 2013 at 7:10 AM
"While a number of published articles have described an association between certain genes and the ability for humans to withstand low oxygen at high levels, it was very hard to be sure if the association was causal," said principal investigator Gabriel G. Haddad, Distinguished Professor and chair of the Department of Pediatrics at UC San Diego School of Medicine, and Physician-in-Chief and Chief Scientific Officer at Rady Children's Hospital-San Diego, a research affiliate of UC San Diego.
The researchers therefore looked at genetic orthologs - corresponding gene sequences from another species, in this case the fruit fly - to assess the impact of observed genetic changes on function under conditions of hypoxia.
"We found that flies with these genes down-regulated had a remarkably enhanced survival rate under hypoxia," said Haddad.
According to the scientists, their findings have important implications - not only for those who live at high altitudes, but also in treating certain cardiovascular and brain diseases related to low oxygen levels in individuals living at any altitude.
Next steps include whole genome sequencing for the almost 100 remaining patient samples to test if biomarkers exist to predict CMS. The researchers also retrieved skin samples from these individuals, which can be reprogramed into induced pluripotent stem cells. These IPS cells, with the capacity to become glia or red blood cells, could be used to test resilience to low oxygen levels.
Source: The University of California