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Longevity Briefs: The Genetics of Human Performance

Posted on 4 November 2021

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Longevity briefs provides a short summary of novel research in biology, medicine, or biotechnology that caught the attention of our researchers in Oxford, due to its potential to improve our health, wellbeing, and longevity.

Why is this research important: Thousands of years ago our ancestors had to hunt prey and gather food to be able to survive. At these times natural selection favoured the tribes that were able to chase and track their prey for extended periods of time, in other words, the hunter-gatherers who displayed greater physical endurance. This allowed them to cross vast expanses, waiting for their prey to tire before going in for the kill, avoiding a dangerous fight.

A Hadza man on a hunt, with his bow and arrow.

This resulted in a regular supply of sustenance rich in fat and protein, a food source far denser in calories than they had had before. It is thought that access to this diet facilitated the expansion and optimisation of the human brain, allowing those early sapien species to become the humans we recognise today.

Although humans today live a far more sedentary life, anyone who has played or watched top athletes at the peak of their sports can appreciate these genetic underpinning which give some humans a much greater performance capacity, compared to others.

VO2 max is affected by the function of numerous organs. Source: The Genetics of Human Performance

What did the researchers do: In a paper recently published in Nature, researchers investigated our current understanding of how our unique genetic code plays a role in our physical abilities. The team looked at several large scale studies which explored the association of variations in the DNA of different individuals with biomarkers of physical endurance such as V02 max, and related phenotypes such as strength, cardiac output and vascular adaptations. The study also took into account the difference endurance training had on how genes interact with their environment.

Key takeaway(s) from this research: The authors summarise the genes confidently associated with human performance in a handy table.

The genome wide association studies (GWAS) the team looked at highlighted the importance of the brain and heart in performance. The GWAS exploring performance with VO2 max singled out a common mutation in the ACTN3 gene confers increased slow twitch muscle fibre formation, which are more adept at sustaining endurance activities.

It was also found that a single nucleotide variant found in MYBPC3 was significantly associated with increased odds of being an elite endurance athlete. Interestingly however, this gene is also associated with increased risk of  hypertrophic cardiomyopathy, or thickening of the heart muscle wall, making it harder to pump blood. There have been a few famous incidents in professional sport in which this condition has caused the collapse of a player, Fabrice Muamba in a premier league game in 2012, and Christian Eriksen playing for Denmark in the recent European Championships.

The results also showed that endurance training influences the expression of genes and the role of inflammation in our body by altering the makeup of our muscles from fast twitch, to slower twitch muscle fibres.

The authors go on to summarise the gaps in our current knowledge around human performance and genetics, and suggest what future research will bridge these gaps in understanding.

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