Neanderthal DNA and Your Muscles: What You Need to Know

A recent groundbreaking study has revealed that a specific genetic variant inherited from Neanderthals significantly affects muscle function in modern humans. The enzyme AMPD1, which is crucial for energy production in our muscles, is at the center of this fascinating discovery.

The Enzyme at the Heart of the Matter

AMPD1 activity is vital for normal muscular function. When genetic mutations impair this enzyme, it can lead to metabolic myopathy, particularly in Europeans, where about 9% to 14% are affected. Researchers found an intriguing link between ancient Neanderthal DNA and a unique AMPD1 variant that all Neanderthals carried but is absent in other species.

A Powerful Discovery

In the study published in Nature Communications, researchers demonstrated that this Neanderthal variant reduces AMPD1 activity by an astounding 25% in lab-produced enzymes. Even more striking, in mice with this genetic modification, muscle tissue showed an 80% reduction in enzyme function, raising serious questions about muscle performance.

A Glimpse Into Our Shared Ancestry

Through interbreeding with Neanderthals—who roamed Europe and Western Asia 50,000 years ago—modern humans have inherited about 1% to 2% Neanderthal DNA. Today, 2% to 8% of Europeans carry the Neanderthal AMPD1 variant, suggesting it has been generally tolerated throughout history.

Implications for Athletic Performance

Yet the presence of this variant has powerful implications for athleticism. According to study author Dominik Macak, elite athletes carrying a non-functional AMPD1 variant face a staggering 50% lower chance of reaching peak athletic performance. Analysis of over 1,000 top athletes across various sports confirmed this surprising trend.

Why Does This Matter?

While the AMPD1 variant may not greatly impact most individuals in their daily lives, its significance surfaces during extreme physical activities—like those endured by athletes. Macak and his team stress the need to study genetic variants within their physiological and evolutionary frameworks for a fuller understanding of their effects.

Cultural Shifts and Genetic Evolution

Hugo Zeberg, the senior author, posits that modern cultural and technological developments may have reduced the necessity for extreme muscle performance, leading to the relatively benign nature of AMPD1 variants today.

Lessons From Our Neanderthal Ancestors

This research not only enhances our knowledge of how ancient genes influence contemporary human physiology but also sheds light on genetic diversity's role in health and performance. The implications are profound: as we continue to unravel our genetic heritage, we gain invaluable insights into our evolutionary journey and its impact on modern life.