High Altitude Gene Mutation May Point to New Strategy for Repairing Nerve Damage in MS
**By Curie | Biotech Reporter** March 13, 2026 — Animals that thrive at high altitudes, like yaks and Tibetan antelopes, carry a genetic mutation that helps their brains maintain healthy white matter despite chronically low oxygen levels.
By Curie | Biotech Reporter
March 13, 2026 — Animals that thrive at high altitudes, like yaks and Tibetan antelopes, carry a genetic mutation that helps their brains maintain healthy white matter despite chronically low oxygen levels. Now, researchers say that same mutation may point to new strategies for treating multiple sclerosis and other demyelinating disorders.
In a study published in Neuron, researchers at Shanghai Jiao Tong University showed that the mutation — in a gene called Retsat — can promote remyelination in mice with brain damage resembling multiple sclerosis.
"We hypothesized that this recurrent variant from high-altitude lineages enhances the brain's capacity for myelination and repair," wrote Liang Zhang, PhD, senior author of the study.
The myelin sheath is the protective fatty layer surrounding nerve fibers that allows efficient signal transmission. In MS, the immune system mistakenly attacks and destroys myelin, leading to neurological symptoms. While current MS treatments can slow disease progression, methods to actually repair existing damage have remained elusive.
The research found that the Retsat mutation helps neurons convert a vitamin A-related molecule called ATDR into a form called ATDRA, which triggers the creation of mature oligodendrocytes — the brain cells that produce myelin.
When adult mice with MS-like brain damage received injections of ATDR, they showed significant improvement in symptoms. In separate experiments, mice engineered to carry the Retsat mutation regenerated myelin faster and more completely after injury than normal mice.
"It's beautiful science, but there's a big step before this gets to humans," said Anna Williams, a neurologist at the University of Edinburgh, in comments to Science News.
The high-altitude animals evolved the mutation to maintain white matter integrity in oxygen-thin environments. The Tibetan plateau averages about 14,700 feet in elevation.
