8,000-Year-Old Mutation Key to Human Life at High Altitudes

In an environment where others struggle to survive, Tibetans thrive in the thin air on the Tibetan Plateau, with an average elevation of 14,800 feet. A study led by University of Utah scientists is the first to find a genetic cause for the adaptation – a single DNA base pair change that dates back 8,000 years – and demonstrate how it contributes to the Tibetans’ ability to live in low oxygen conditions. Senior author Josef Prchal, MD, professor of internal medicine, native Tibetan and author Tsewang Tashi, MD, and first author Felipe Lorenzo, MD, PhD, describe their work published online in the journal Nature Genetics. on August 17.