This Genetic Mutation Helps Yaks Survive at High Elevations. It Could Lead to Treatments for Nerve Damage in Humans

Animals that dwell at high altitudes have adapted to cope with low oxygen levels, a condition that damages a vital part of nerve cells

Kunjal Bastola | Editorial Intern

March 17, 2026

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Some animals, including yaks and Tibetan antelopes, thrive at high elevations where oxygen levels are low. In humans, however, insufficient oxygen during development can lead to problems such as cerebral palsy in newborns.

Now, researchers suspect that a genetic mutation in high altitude-loving creatures might hold a clue to treating certain nerve damage in people. With the help of mice, they uncovered an existing biological pathway that seems to help repair nerve cells’ protective sheaths, leading to possible therapies for conditions like cerebral palsy and multiple sclerosis, according to a study published March 13 in the journal Neuron.

“Evolution is a great gift from nature, providing a rich diversity of genes that help organisms adapt to different environments,” says study co-author Liang Zhang, a neuroscientist at Shanghai Jiao Tong University School of Medicine in China, in a statement. “There is still so much to learn from naturally occurring genetic adaptations.”

Prior research has found that creatures living on the Tibetan Plateau—which has an average elevation of about 14,700 feet—carry a mutation on a gene called Retsat. It’s known to encode a protein involved in regulating fat cells, but since it’s primarily found in high-altitude animals, scientists suspected that it might also play a role in their ability to tolerate low oxygen.

“People usually think it’s because of better lung capability, but I wondered whether evolutionary adaptation changes the brain,” Zhang tells Science News’ Simon Makin, adding that he was interested in why these animals have brains with normal white matter.

White matter, which comprises about half the brain, acts as a highway system for different brain regions to send messages to one another. It consists of bundles of nerve fibers that are wrapped in myelin, a protective layer that helps cells communicate efficiently. Making this important sheath requires a great deal of energy, gained from oxygen in the brain, so low levels of the gas can interfere with its creation, leading to neurological problems.

So, Zhang and his colleagues introduced the Retsat mutation to some newborn mice, then exposed them to a low oxygen environment, equivalent to an elevation of about 19,000 feet, for a week. Compared to regular mice that spent time in the thin air condition, those with the genetic variant did better in learning, memory and social behavior tests and had more myelin protecting their nerve fibers.

The researchers then tested whether the mutation could repair damage induced by multiple sclerosis (MS), a disease in which the immune system mistakenly attacks myelin. They artificially induced nerve damage in adult mice to mimic the autoimmune disease, and found that animals with the mutation regenerated their myelin more quickly and fully than those without it. Mice with the variant also had more support cells called oligodendrocytes, which make the protective layer, near their injury sites.

Further analyses revealed that the genetic mutation helps nerve cells convert a molecule called ATDR into a different form that ramps up production and maturation of oligodendrocytes. Injecting nerve-damaged mice with ATDR or its converted form improved remyelination and motor function.

“ATDR is something everyone already has in their body,” Zhang says in the statement. “Our findings suggest that there may be an alternative approach that uses naturally occurring molecules to treat diseases related to myelin damage.”

Anna Williams, a neurologist at the University of Edinburgh in Scotland who was not involved in the study, tells Science News that “it’s beautiful science, but there’s a big step before this gets to humans.”

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Kunjal Bastola is an editorial intern with Smithsonian magazine.