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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2 Comments
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.
In what amazes evolutionists amazes me. This is a big nothing-burger. Nenaderthals were 99.84% identical in the DNA sequences to us. So both of us using toothpicks? No big deal. No pertinence to evolution. What are the big differences. It is the epigenetic modifications that make adaptations without any DNA sequence involvement. No mutations involved. However, evolutionists call epigenetic modifications as being ‘DNA differences’.
That is is a lie. The modifications are chemical by methylations changes that turn genes up and down or on and off. Histone changes too. Epigenetic changes are not DNA mutations to make evolution seem real. It is smoke and mirrors.
I, as a for instnace, has 92% more Neanderthal gene expression than average human beings. I am in pretty good health. I look 15 years younger than I really am. Epigenetic modifications, making gene expression differences has an intelligent design implication, not a Godless evolution one. Too many people have been suckered by this sleight of hand deception.
The epigenome producing the epigenetics, gene expression modifications into adaptations is like a software program running overtop the DNA hardware. This implies creation. The simpler answer. The ‘dots of the picture’ by scientism giving a Godless existence has much money and political science benefits for those who push it. Still water runs deep. What is in the depths of all this? It is a battle of good vs evil with Jesus Christ as the Creator, also known as The Word in Genesis. There’s your science. There is the truth.
Neanderthals were mere humans with difference gene expressions. That is it.