Cardiology

We currently study the role of nuclear membrane proteins (emerin, SUN, nesprins) and intercalated disc proteins (POPDCs, XIRPs) in cardiac conduction, especially in relation to human genetic disease (Emery-Dreifuss and other muscular dystrophies with cardiac conduction defects) and with particular interest in the short isoforms of nesprins that are found only in skeletal and cardiac muscles.

We work closely with Dr Heidi Fuller and co-workers on the theme of human inherited neuromuscular disease. We use clonal cell lines of human myoblasts to study the early development of skeletal muscle in cell culture. We produce our own monoclonal antibodies (mAbs) for use in western blotting, confocal microscopy and immunoprecipitation, and we characterize them with epitope mapping techniques. PCR-cloning is used to produce human recombinant immunogens.

Our work for the British Heart Foundation is done with collaborators in Imperial College and King’s College, London. We have also been involved in the development of exon-skipping therapies for Duchenne muscular dystrophy, in the identification of alternatively-spliced isoforms of nebulin and in the study of proteins involved in the pathogenesis of myotonic dystrophies (MBNL, MSH and DMPK).

Group Members and local collaborators: Dr Le Thanh Lam