Pathology of neuromuscular diseases

This project focuses on both hereditary and non-hereditary causes of neuromuscular diseases, such as diseases of the peripheral nervous system or muscular wasting. Apart from genetic influences, diabetes, injuries incurred from accidents, and cancer can also trigger these illnesses. To find the biochemical differences and similarities between the different causes, the project team from the Cardiovascular Pharmacology group investigates nerve and muscle tissue of different animal models (mice and fish) as well as of patients. Additionally, suitable cell culture models are utilised for that work. The project aims to clarify the influence of mutations and exogenous factors (such as traumata or drug side effects) on the protein composition of tissues and to unravel which metabolic pathways are affected by these processes. The project team is also interested in the question whether pathophysiological processes of hereditary and acquired illnesses have common features. This question is especially important towards the definition of suitable therapeutic approaches and furthermore allows deep insights into the complex function of the nervous system and the skeletal muscles.

The project team has already been able to verify the mainly neuroprotective function of the folding chaperone protein SIL1 and to identify the INPP5K gene as the cause for a certain hereditary muscular dystrophy. Currently, the scientists are conducting studies on the identification of pathophysiological cascades that are involved in the pathogenesis of neurodegenerative and neuromuscular diseases. To this end, proteome analyses are combined with analyses of protein-protein interactions as well as with cell biology studies. Furthermore, the group aims to elucidate the molecular reason for the frequent involvement of the cardiovascular system in many neuromuscular diseases. They plan a close collaboration with the Protein Dynamics and Lipidomics groups and their colleagues from the Cardiovascular Pharmacology group. Another future focus of the work are molecular cascades in muscle atrophy, aiming to identify candidate proteins that counteract muscle weakness and muscle loss and thus might also be important for a better muscle function in old age.