At a Glance
- A new study found that a gene variant inherited from Neanderthals produces a less efficient version of the AMPD1 enzyme, which is crucial for producing energy in skeletal muscles.
- When tested in the lab, this ancient enzyme variant exhibited reduced activity, and its introduction into mice resulted in a significant impairment of muscle enzyme function, ranging from 20% to 80%.
- Although the Neanderthal gene variant is generally well-tolerated, it significantly reduces an individual’s likelihood of becoming a top-level athlete, effectively halving their chances of reaching elite performance levels.
- This specific AMPD1 gene variant, which was passed down to modern humans through interbreeding, is currently carried by approximately 2% to 8% of people with European ancestry today.
- Researchers suggest that cultural and technological advancements may have reduced the evolutionary pressure for peak muscle performance in both Neanderthals and modern humans, thereby explaining the persistence of this gene.
A gene variant inherited from our ancient relatives, the Neanderthals, may influence top-level athletic performance in modern humans, according to a new study in Nature Communications. Researchers discovered that a specific version of the gene AMPD1, found in all sequenced Neanderthal genomes, produces a less efficient enzyme crucial for generating energy in muscles. This genetic legacy, passed down through interbreeding tens of thousands of years ago, is still present in a small percentage of people today and appears to affect the body under extreme physical stress.
The study focused on the enzyme AMPD1, a protein that helps skeletal muscles function by playing a role in the production of ATP, the primary energy currency of our cells. Scientists found that the Neanderthal version of this enzyme is about 25% less active than the one more common in modern humans. When they introduced the ancient variant into mice, the effect was even more pronounced, reducing the enzyme’s activity in muscle tissue by about 80%. This suggests the Neanderthal gene significantly impairs the enzyme’s function.
While this less-active gene variant is carried by 2% to 8% of modern Europeans, it does not seem to cause significant health problems in daily life. However, its effects become apparent at the limits of physical endurance. “Carrying a broken AMPD1 enzyme, the likelihood of reaching athletic performance is reduced by half,” said Dominik Macak, the study’s first author, in a press release from the Max Planck Society. An analysis of over 1,000 elite athletes showed that individuals with a non-functional version of the enzyme are far less likely to compete at the highest levels of their sport.
The persistence of a less-functional gene in both Neanderthals and modern humans raises an intriguing evolutionary question. Senior author Hugo Zeberg suggests a possible explanation: “It’s possible that cultural and technological advances in both modern humans and Neanderthals reduced the need for extreme muscle performance.” As survival became less dependent on peak physical power, a less efficient muscle enzyme may have become more tolerable. The research highlights how studying our ancient genetic inheritance can provide key insights into modern human biology, health, and performance.
References
- Macak, D., Lee, S.-Y., Nyman, T., Ampah-Korsah, H., Strandback, E., Pääbo, S., & Zeberg, H. (2025). Muscle AMP deaminase activity was lower in Neandertals than in modern humans. Nature Communications, 16(1), 6371. https://doi.org/10.1038/s41467-025-61605-4
- Max Planck Society. (2025, July 14). Neanderthal gene variant lowers muscle enzyme activity in modern humans. Phys.Org; Max Planck Society. https://phys.org/news/2025-07-neanderthal-gene-variant-lowers-muscle.html
