Lessons from the 'gene for speed'

As you prepare to watch the world's best athletes competing at the London 2012 Olympics, have you thought about what distinguishes elite sprinters from long-distance athletes?

The University of Sydney's Kathryn North is an internationally renowned genetic researcher whose work includes the world-first discovery of the 'gene for speed', known as alpha actinin 3 (ACTN3). A common variant in the ACTN3 gene results in alpha-actinin-3 deficiency in one in five people, which influences muscle function and performance.

"Whether or not you have ACTN3 really influences whether you are going to be better at being a specialised sprint athlete or a specialised endurance athlete," says Professor North, who worked with some of Australia's top athletes to make her findings.

"To date, no Olympic sprint athletes at the very short levels of distance, like 100 metres, have been found to be deficient in alpha actinin 3."

However Professor North's research into the way muscles work in has wider implications. Her work on the gene started with a desire to see how it might influence muscle disease.

"If alpha actinin 3 influences how muscle works in elite athletes, can it influence in kids with muscular dystrophies?"

Questions such as this are particularly relevant to Professor North in her role as Head of the Institute for Neuroscience and Muscle Research based at the Children's Hospital at Westmead.

"We've demonstrated that whether or not you have alpha actinin 3 does influence the severity of the disease. And now we understand the , we can start to harness that in terms of directing future therapies."

Her work has also provided insight into for common health problems in the general population such as obesity. Professor North has shown that the absence of ACTN3 influences skeletal , muscle and fat mass, adaptive response to diet and exercise and susceptibility to muscle damage.

"What we've found is that if you don't have alpha actinin 3 you actually gain weight much more slowly on a high-fat diet."

add to favorites email to friend print save as pdf

Related Stories

Potential therapy for congenital muscular dystrophy

Dec 30, 2008

Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy. The related report by Rooney et al, "Laminin-111 restores regenerative capacity in a ...

Recommended for you

Exploring 3-D printing to make organs for transplants

Jul 30, 2014

Printing whole new organs for transplants sounds like something out of a sci-fi movie, but the real-life budding technology could one day make actual kidneys, livers, hearts and other organs for patients ...

High frequency of potential entrapment gaps in hospital beds

Jul 30, 2014

A survey of beds within a large teaching hospital in Ireland has shown than many of them did not comply with dimensional standards put in place to minimise the risk of entrapment. The report, published online in the journal ...

Key element of CPR missing from guidelines

Jul 29, 2014

Removing the head tilt/chin lift component of rescue breaths from the latest cardiopulmonary resuscitation (CPR) guidelines could be a mistake, according to Queen's University professor Anthony Ho.

Burnout impacts transplant surgeons (w/ Video)

Jul 28, 2014

Despite saving thousands of lives yearly, nearly half of organ transplant surgeons report a low sense of personal accomplishment and 40% feel emotionally exhausted, according to a new national study on transplant surgeon ...

User comments