Neuromuscular Research

Neuromuscular Research Group Leader and Institute Director, Professor Kathryn North was the first to identify the common genetic variation in alpha-actinin-3 (R577X) that influences muscle function and performance in elite athletes and the general population (the ‘gene for speed').

One in five Australians and more than one billion humans worldwide do not express ACTN3 in their skeletal muscle. The absence of ACTN3 alters skeletal muscle performance, metabolism, mass, our response to exercise and susceptibility to muscle damage. Our research into the ACTN3 gene have greatly improved understanding of normal skeletal muscle biology, as well as highlighting major roles for health and fitness across the human lifespan.

Group Leaders: 
Group Members: 
Dr Jane Seto
Role: 
NHMRC CJ Martin Fellow
Kelly Roeszler
Role: 
Senior Laboratory Assistant
Chrystal Tiong
Role: 
Laboratory Assistant

The use of recombinant adeno associated viral (rAAV) vectors to assess mechanisms of muscle mass and function in wild-type and Actn3 KO mice
The absence of a-actinin-3 significantly reduces muscle mass in humans and mice (Actn3 KO). Researchers will use rAAV as a tool to over-express various proteins involved in the muscle hypertrophy/atrophy pathway to assess the role of ACTN3 in skeletal muscle mass and development.

Defining the role of α-actinin-3 in brown adipose tissue and the influence of ACTN3 genotype in adaptive response to diet and cold exposure
The ACTN3 X-allele has shown strong, positive selection during recent human evolution. The mechanism for this change is currently unknown. ACTN3 has recently been identified in BAT, a key organ responsible for heat generation in both animals and humans. This project will explore the role and function of ACTN3 in both skeletal muscle and BAT in response to caloric restriction and exposure to cold.  

Characterising ACTN3 genotype as a modifier of Duchenne muscular dystrophy (DMD) and skeletal muscle regeneration
DMD is the most commonly inherited skeletal muscle disorder that affects boys. It results in devastating muscle wasting and premature death. Using our novel mouse model the team will assess the role that ACTN3 plays in the progression of DMD and its effects on muscle regeneration. Identifying the role of ACTN3 in disease will guide the selection of effective interventions to improve muscle metabolism, and maintain skeletal strength during the progression of DMD and other inherited muscle diseases.

Investigating the genetic influence on athletic performance (POWERGENE consortium)
Researchers have established a multinational consortium to study the genetic influence of sprint/power performance in elite athletes. Understanding the genes which play a role in the elite athlete will highlight novel pathways that influence skeletal muscle function, metabolism and performance. With this understanding researchers will potentially identify novel therapeutic pathways for both inherited and acquired diseases; seeking to improve muscle metabolism, bulk and strength.