Researchers have found two mutations in Sherpa population from Zhangmu Town, Tibet, which could help explain their adaptation to the extreme Himalayan environment.
Longli Kang, Li Jin sequenced 76 Sherpa individuals' complete mitochondrial genomes living in Zhangmu Town, Tibet, and found two mutations that were specific to the Sherpa population.
The authors suggest that variants for one recent mutation in particular that was introduced into the Sherpa population about 1,500 years ago, A4e3a, that may be an important adaptation for low oxygen environments, or hypoxic conditions.
This mutation is found in an 'entry enzyme' stage in the mitochondrial respiratory complex, which may explain the importance of the role of mitochondria in the Sherpa population's ability to adapt to the extreme Himalayan environment.