A Neanderthal AMPD1 variant still present in some Europeans lowers muscle efficiency and may hinder elite athletic ability.
AMPD1 is an enzyme essential for producing energy in muscles and maintaining normal muscular performance. Genetic mutations that reduce AMPD1 activity are the most frequent cause of metabolic myopathy in Europeans, affecting between nine and 14 percent of the population.
In research published in Nature Communications, scientists analyzed ancient Neanderthal DNA alongside modern human genomes and discovered that all Neanderthals carried a unique AMPD1 variant not found in other species. Laboratory testing of this variant showed a 25 percent drop in enzyme activity. When the same variant was introduced into genetically engineered mice, AMPD1 activity in muscle tissue decreased by 80 percent, severely weakening enzyme function.
The findings also indicate that modern humans acquired this variant through interbreeding with Neanderthals, who lived in Europe and Western Asia before meeting modern humans about 50,000 years ago. Today, people of non-African ancestry carry an estimated one to two percent Neanderthal DNA.
The downside of reduced AMPD1 function
Today, between two and eight percent of Europeans carry the Neandertal AMPD1 variant, indicating that the mutation is largely well-tolerated within the population.
“Strikingly, most individuals who carry the variant do not experience significant health issues. However, the enzyme appears to play an important role in athletic performance”, explains Dominik Macak, the study’s first author. An analysis of over a thousand elite athletes across various sports revealed that individuals who carry a non-functional AMPD1 are less likely to become top-level athletes.
Evolutionary perspective and modern relevance
“Carrying a broken AMPD1 enzyme, the likelihood of reaching athletic performance is reduced by half,” Macak adds.
In summary, although AMPD1 activity appears to have only moderate relevance in contemporary Western societies, it is important under extreme physical conditions, such as those experienced by athletes. The researchers emphasize the importance of studying genetic variants in their physiological and evolutionary contexts in order to understand their biological effects.
“It’s possible that cultural and technological advances in both modern humans and Neanderthals reduced the need for extreme muscle performance”, says senior author Hugo Zeberg.
Understanding how ancient gene variants affect human physiology today can provide valuable insights into health, performance, and genetic diversity.
Reference: “Muscle AMP deaminase activity was lower in Neandertals than in modern humans” by Dominik Macak, Shin-Yu Lee, Tomas Nyman, Henry Ampah-Korsah, Emilia Strandback, Svante Pääbo and Hugo Zeberg, 10 July 2025, Nature Communications.
DOI: 10.1038/s41467-025-61605-4
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1 Comment
Cool. Now let’s talk about subsaharans interbreeding with H.Erectus keeps 85% of the population with an IQ below 85. So no top level scientists from that group.