They’ll be working with researchers at King's College London, UCL, the University of Vienna and the Max Plank Institute to unravel how various cardiomyopathy genes cause problems with heart muscle contraction.
Contraction of heart and skeletal muscles relies on the highly regular assembly of two main contractile protein filaments, actin and myosin, into sarcomeres – the building blocks of muscle tissue. Actin filaments are bound to a structure called the z-disk, which forms the boundaries of the sarcomere. Mutations in the z-disk are emerging as a major cause of dilated and hypertrophic cardiomyopathy – chronic diseases of the heart muscle. In this large collaborative venture, Dr Ghemlich and Prof Watkins will unravel how the z disk is disrupted by cardiomyopathy mutations.