Understanding the extremes of muscle performance – from elite athletes to children with muscle disease.

Skeletal muscle makes up approximately 40 per cent of our body weight and is a highly versatile tissue that can adapt to everyday stresses like exercise training. Small genetic changes can enhance how our muscle works, which explains why some people are naturally better at certain sports. However, other changes can cause defects in the way our skeletal muscle functions resulting in disease.

The Muscle Research group is dedicated to understanding genetic variations that impact the extremes of muscle performance, from elite athletes to children with muscle diseases.

A major focus of our group is on ACTN3 – the Gene for Speed.

We were the first to show that one in five people worldwide do not make ACTN3 protein due to a genetic change in the ACTN3 gene (R577X). We now know that ACTN3 is vital for elite sprint performance. In fact, having ACTN3 is essential for an Olympic-level sprinter!

ACTN3 also affects muscle diseases. We showed that not having ACTN3 slows disease progression in Duchenne muscular dystrophy – an inherited muscle disease that affects one in 6,000 boys. Our research on ACTN3 and other sports genes continues through our leadership in international consortiums like Athlome Consortium.

At the other end of the spectrum are children with muscle disease.

We are part of the National Muscle Disease Bio-databank where we collect and store samples such as blood and clinical information from patients with muscle disease. The blood sample is used to create induced pluripotent stem cells (iPSCs) that can be turned into skeletal muscle in the laboratory. These patient samples allow us to study the impact of their disease on the immune system and to generate models of the patient’s disease in a dish.

Our team consists of laboratory scientists, genetic counsellors, nurses and neurologists who work together to improve our understanding of the complexity of muscle performance and disease.

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