Emery Dreifuss and Facioscapulohumeral muscular dystrophies (EDMD/FSHD) are genetically linked diseases characterized by a broad set of specific defects such as skeletal muscle weakness, muscle degeneration, vascular and myocardial dysfunction. Despite important progress in the understanding of the pathogenic mechanisms behind these diseases, the cellular pathways leading to specific defects are not well understood. In our lab we analyze the potential roles of specific proteins associated with the nuclear lamina and chromatin. Our approach is based on experiments using cultivated EDMD and FSHD patient muscle cells. In addition, we are studying the functional significance of these lamina- and chromatin associated proteins for developmental processes by using Xenopus laevis as a model system.
We are using a broad spectrum of cell and molecular biology techniques, cell culture, immunofluorescence and electron microscopy and microinjection of mRNAs or proteins into early cleavage stage embryos of Xenopus.