Most of us have a little Neanderthal ancestry, and it can affect our muscles. A small change in a muscle enzyme can slightly limit how hard our muscles can work.
People outside Africa usually have about 2% Neanderthal DNA due to ancient interbreeding. This shared history affects traits today, especially how our muscles use energy when we push ourselves.
In a notable study from 2017, researchers explored an enzyme called AMPD1. This enzyme helps muscles recycle energy-rich molecules. Neanderthals had a version of AMPD1 that worked less efficiently compared to modern humans. When scientists tested this in lab conditions, the Neanderthal version showed about 25% less activity.
Neanderthal versions of AMPD1 show up in modern humans due to interbreeding. Today, this genetic variant is found mostly in Europe and Western Asia. This suggests a link to the early modern humans who met Neanderthals about 50,000 years ago. They interbred and spread across Eurasia.
AMPD1 plays a key role in a process called the purine nucleotide cycle that helps muscles produce ATP, the energy source needed for muscle contraction. When put under stress, like during exercise, the enzyme helps keep energy levels stable. In lab tests, mice with the Neanderthal version of AMPD1 had significantly lower enzyme activity.
Interestingly, this research also looked at how AMPD1 affects athletic performance. An analysis of over a thousand elite athletes found that individuals with one non-functioning AMPD1 allele were about 50% less likely to achieve high athletic performance. This shows how the enzyme’s efficiency can influence top-level athletes.
While reduced AMPD1 activity is common, many carriers do not experience noticeable issues. Some may face symptoms like cramps or fatigue, but others have no symptoms at all. Data from genetics studies suggest a slight increase in the risk for conditions like varicose veins among those with AMPD1 variants, though this risk is generally modest.
You might wonder why this less efficient enzyme variant has lasted through generations. One reason could be that its impact on everyday survival is minimal. Humans today don’t require extreme muscle output for daily activities, so a small decrease in efficiency might not matter much.
Importantly, having this variant does not mean a person cannot excel in sports or stay healthy. While it may slightly affect performance in high-pressure situations, other genetic factors and training play significant roles.
A closer look at AMPD1 reveals it’s a protein that speeds up chemical reactions, especially those related to energy production. The Neanderthal version of this enzyme includes an amino acid change that lowers its effectiveness.
This isn’t the only sign that human energy metabolism differs from other primates. Earlier studies showed modern humans carry unique changes in another enzyme called ADSL, which affects energy levels in key tissues. Together, these findings highlight a shift in energy management as humans evolved.
So, what’s the takeaway? While daily life is typical for most with this enzyme variant, its effects can be seen at the highest levels of sport. Understanding our genetic history can help us appreciate why certain traits persist and how they affect our lives today. This research is crucial for both medicine and sports science, showing that even tiny changes in genetics can shape our capabilities and performance under pressure.
The original study was published in Nature Communications.