A Female Triathlete Rides Away From Two Competitors During The Kona World Championships In 2022

The Genetics of Athletic Excellence: The ELITE Study

BY Anders Johnson

Decoding the secrets of superhuman performance. How Eero Mäntyranta's genetic marvel shaped medicine and the aim of a new study opening the future of endurance sport.

Introduction: Eero Mäntyranta’s Genetic Marvel

In the realm of athletic achievements, the stories of remarkable individuals often seem like tales of unparalleled dedication and unwavering determination. One such story, that of the legendary Finnish cross-country skier Eero Mäntyranta, was forever etched into the annals of sports history. His was a story of an extraordinary career marked by seven Olympic medals and a touch of genetic marvel. 

Mäntyranta’s fame, however, was accompanied by controversy. Speculations of blood doping, a performance enhancement technique involving the infusion of red blood cells, clouded his achievements. It wasn’t until groundbreaking genetic research that his story took a unique turn. The revelation that Mäntyranta and his family possessed a genetic mutation influencing red blood cell production provided a scientific explanation for his exceptional abilities. 

The legacy of Eero Mäntyranta extends beyond his seven Olympic medals, emphasizing the intersection of genetics and athletic achievement. His tale remains an intriguing chapter in the ongoing exploration of how our genes influence and, in some cases, redefine the limits of human performance in the world of sports. This discovery left us questioning: Could there be more superhumans among us, hiding in plain sight?

In elite athletics, the profound impact of genetics on athletic prowess and health is undeniable. Stanford has begun a superhuman study inspired by Mäntyranta called the ELITE Study (Exercise at the Limit—Inherited Traits of Endurance) which is looking to further the understanding of high performance and all that goes with it. The study defines fitness not by a number of gold medals but by VO2max, the maximum amount of oxygen someone can extract from the air (Study criteria: 65+ for men and 55+ for Women). Clearly, VO2max is not the whole story of athletic performance (biomechanical efficiency, ability to deal with metabolic byproducts, psychology, etc. etc.), but it is the most universal and easily measurable indicator of aerobic fitness.

This research endeavor delves into the extreme biology of athletes, offering insights that could revolutionize training methodologies, redefine human limits, and even pave the way for new drugs and therapies to improve population health and reduce widespread disease.

The Road to Personalized Excellence

Imagine a world where athletes can receive personalized training programs based on their unique genetic makeup, optimizing their performance and minimizing the risk of injury. The ELITE study could provide the roadmap for such advancements, ushering in an era where every athlete can tap into their genetic potential.

At the heart of the ELITE study is the exploration of extreme biology. Athletes, particularly those at the pinnacle of their sports, exhibit physiological traits that push the boundaries of what we thought possible. The study seeks to unravel the intricacies of this extreme biology, offering a glimpse into the limits of human performance and the evolutionary adaptations that make elite athletes unique.

Superheroes Among Us

Often, in contemporary medicine, it is only the diseased state that is studied which makes sense for many reasons, especially the fact that those are the individuals that currently need help and may be suffering. This is a pragmatic approach, given the challenges in scrutinizing healthy individuals in an attempt to find hidden cures for specific diseases. The ELITE study is doing just the opposite, studying outliers at the other end of the health spectrum with the goal of deciphering the physiological nuances of peak health, performance and extreme biology. 

One such example of this type of discovery in the realm of cardiovascular genetics was Sharlayne Tracy. Tracy emerged as a pivotal subject in the Dallas Heart Study when she was found to have a profound anomaly in cholesterol metabolism. An examination of her genetic profile revealed inactivating mutations in the PCSK9 gene, responsible for regulating LDL cholesterol levels. This genetic disruption manifested in Sharlayne’s remarkably low LDL levels, specifically at 14 mg/dl. The PCSK9 gene exhibited a perpetual state of inactivity, prompting LDL receptors to meticulously scavenge cholesterol, to put it simply.

This revelation prompted a paradigm shift in drug development. Using the discoveries from Tracy’s extreme physiology, researchers were able to craft drugs to neutralize PCSK9. Approved in 2015, these drugs demonstrated a significant reduction in LDL levels and, consequently, a notable decrease in heart disease risk.

The PCSK9 saga not only marked a revolutionary juncture in drug discovery but also underscored the efficacy of a genomic-driven approach. By dissecting naturally occurring mutations and their impact on protein targets, this method not only accelerated the development cycle but also established causal relationships, heralding a new era in precision medicine and offering unprecedented insights into the intricate interplay of genetics in human health.

From Outliers to Insights

Human evolution has shaped us in remarkable ways, and elite athletes represent a culmination of thousands of years of adaptation. By studying the genetic variations and physiological responses of these athletes, researchers can gain insights into how our species has evolved to excel in specific physical endeavors.

The most extreme examples often hold the key to radical discoveries. The ELITE study encourages us to learn from the outliers, the individuals who defy conventional norms in the world of sports. By examining the genetic makeup and physiological responses of these exceptional athletes, we gain insights that can be applied across the entire spectrum of human performance.

Conclusion: The Endurance Revolution Beckons

The ELITE study continues to search the world for these rare individuals because of stories like that of Eero Mäntyranta and his family. This exceptional family led to a better understanding of how the body makes red blood cells and provided inspiration for how we might better treat those with anemia (low red blood cell count). Finding more of these unique individuals could mean uncovering new treatments for those with a whole range of heart, lung, blood and muscle diseases, as well as progressing peak human performance.

As we eagerly await the goal number of participants (watch our progress to 10,000 athletes) – and the outcomes of the ELITE study, one thing is clear – the endurance community is on the brink of a revolution. The fusion of genetics and athlete training is not just a theoretical concept anymore; it’s a tangible reality reshaping the landscape of sports and fitness. The ELITE study isn’t just a study; it’s a promise of a future where the limits of endurance are defined by the strands of our DNA.

If you are an athlete reading this and are interested in joining the ELITE study – please visit our website https://elite.stanford.edu or email us at elitestudy@stanford.edu.If you are interested in reading more about the specifics of what was just discussed, and more, check out chapter 17 – Superhumans – in the book “The Genome Odyssey” by Euan Ashley. Much of the information in this article came from The Genome Odyssey and Euan Ashley himself.

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About Anders Johnson

Anders Johnson is a cyclist, coach, and researcher working in the Ashley Lab at Stanford School of Medicine. He has raced at world championships on the mountain bike, track and in Xterra Off-Road Triathlon, and currently races for the USA Cycling National Team on the Track. His interests, work, and passions align with optimizing peak human performance and using those insights to figure out how to increase population health.

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