Aufklärung der Hintergründe neuromuskulärer Erkrankungen via kombinierter proteomischer und funktioneller Analysen

Due to the vast molecular complexity of skeletal muscle and the nervous system, it is necessary to surmount certain obstacles to carry out systematic explorations and provide significant insights into physiological functions and vulnerabilities. Studies of the etiology of neuromuscular disorders are expanding and have made tremendous progress during the last decade. Multiple technologies have been used to unravel the molecular complexity of these (functionally connected) tissues and elucidate the underlying pathomechanisms. In particular, applied proteomic profiling – which enables the simultaneous quantification of thousands of proteins in one experiment – has provided comprehensive molecular information and thus offered a “bigger picture” of molecular processes along the neuromuscular axis in health and disease. To obtain a broader understanding of general muscle protein composition and gain comprehensive insights into the molecular etiology of different dominant and recessive diseases along the neuromuscular axis, proteomics in combination with further experimental approaches utilizing different model systems including mice and zebrafish, as well as appropriate cell lines were applied.