Muscular Dystrophy

About us

The Muscular Dystrophy group is headed by Dr Stewart Head and their particular interest is in the area of the muscular dystrophies and studying the role of [Ca2+]i in the physiology and pathophysiology of skeletal muscle.

Our group was one of the first to focus on physiological properties of branched fibres (split/malformed) that appear in muscle regenerating from damage, and in dystrophic muscle. Our data have demonstrated an association between the extent of branching and the greater vulnerability to contraction-induced injury in the older fast-twitch dystrophic muscle. Recently, our group has also been involved in research into the role of skeletal muscle Z line cytoskeletal protein-actinin-3, investigating the contractile physiology and [Ca2+]i kinetics of skeletal muscles and fibres from the newly generated homozygous Actn3 knockout mice. The understanding of the consequences for skeletal muscle function of an absence of actinin-3, both in athletes and the general population, is of global importance given the mutation is present in more than 1 billion people worldwide. To date we have analysed the basic contractile properties of actinin-3 deficient muscle demonstrating that in some aspects the mutant fast-twitch muscle behaves like a slow-twitch muscle, relaxing and fatiguing more slowly than its wild-type counterpart and the [Ca2+]i kinetics are similarly slowed compared with wild-type fast fibres. The major techniques utilised include whole muscle force recording to measure contractile properties, muscle fatigue and assess contraction induced damage; single fibre physiology using skinned fibres from skeletal muscle for contractile studies; electrophysiology to analyse ion channel function; and Ca2+ fluorescence microscopy.

Team

Collaborators

Professor Kathryn North M.D., F.R.A.C.P. and Professor Douglas Burrows, Associate Dean, CHW Clinical School, Faculty of Medicine, University of Sydney

  • Two shared grants
  • One PhD student, Marshall Hogarth
  • One postdoctoral researcher, Peter Houweling
Prof Edna Hardeman, PhD, Chair, Professor of Anatomy, Head, Neuromuscular and Regenerative Medicine Unit, Department of Anatomy, School of Medical Sciences, UNSW
  • Sharing 1 Goldstar grant
  • Current application for NHMRC