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A Gene for Speed

Credit: Wikimedia Commons

Olympic gold medallist Usain Bolt is regarded as the fastest man alive. He is the first man to hold both the 100 and 200 metre world records, as well as the 4 x 100 metre relay. Credit: Wikimedia Commons

By Peter Houweling & Kathryn North

A gene that may have enabled ancient humans to spread to colder climates may also be the difference between power athletes and the rest of us, and play a role in muscle diseases.

The full text of this article can be purchased from Informit.

The health of our skeletal muscle is crucial for everyday activities. It provides structural support and stability to bones and joints and is also a key powerhouse for energy production and use.

Our research team at the Murdoch Childrens Research Institute focuses on how our genes effect the ability of our skeletal muscle to perform across the spectrum of health, including both inherited and acquired muscle diseases. By examining both athletes and people affected by muscle diseases we are able to look at the contrasting role our genes play under these extremely different settings.

In 1999 we discovered a variant of the ACTN3 gene, which encodes the protein α-actinin-3. This structural protein is found in the fast-twitch skeletal muscle fibres that produce the rapid, powerful movements that set elite sprinters and weightlifters apart from the rest of us.

The ACTN3 gene variant R577X is common, and results in complete deficiency of α-actinin-3 in almost 20% of the general population (or 1.5 billion people worldwide). In contrast, we found that α-actinin-3 deficiency is extremely rare in sprint athletes, suggesting that this protein plays a crucial role in the function of fast-twitch muscle fibres.

The association between ACTN3 and athletic performance has since been replicated in athletes from around the world. The effect in sprint athletes is...

The full text of this article can be purchased from Informit.