The scientific focus of our group is in the research field of clinical phenotypes and pathogenesis of hereditary and acquired myopathies. The disease groups which are currently under investigation include the autosomal limb girdle muscular dystrophy (LGMD) and autosomal hereditary myofibrillar myopathy (MFM) and the acquired Inclusion Body Myositis (IBM).
With regard to the MFM and LGMD forms we currently conduct detailed characterizations of the Filamin C-associated molecular pathology with respect to newly identified mutations and detected impairments of the ubiquitin-proteasome system (UPS) and autophagy-mediated protein degradation. These works include transfection of murine myoblast cell lines, characterization of the mutant Filamin C protein and mass spectrometric analysis by laser micro-dissection isolated pathological protein aggregates, as well as the identification and characterization of new and disease-associated Filamin-binding partners.
The central aim of the study of IBM and other vacuolar myopathies is to characterize the proteomic signature in these myopathies. On this basis, specific diagnostic markers for the IBM are checked and validated to distinguish them from other myopathies and myositis.
Our investigations include the histopathology of skeletal and cardiac muscle, special staining, immunofluorescence and double immunofluorescence analysis, laser micro-dissection of muscle tissue and cultured myoblasts / myotubes with sequential proteomic, cell-culture systems with primary and iPSC-derived muscle cells, as well as transient and stable transfections of myoblast cell cultures.