Molecular mechanisms of TMEM43 p.S358L induced arrhythmogenic cardiomyopathy (ARVC5)

• Applicants: Professor Dr. Hendrik Milting; Professor Dr. Achim Paululat
• Subject Area: Anatomy and Physiology ; Developmental Biology ; Human Genetics ; Cardiology, Angiology
• Term: from 2020 to 2023
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 450999875

The pathophysiological mechanisms of genetically inherited arrhythmogenic (right ventricular) cardiomyopathy (ARVC type 5) caused by the mutation TMEM43 p.S358L are not fully understood. Our research project aims to identify the molecular mechanisms of this cardiomyopathy in humans and in the Drosophila model. Work on human cell culture lines, patient-specific pluripotent stem cell derived (hiPS) cardiomyocytes and of human myocardial preparations will be performed and combined with genetic, protein biochemical and physiological work on Drosophila melanogaster. Our translational approach aims to contribute to a basic understanding of the human disease, to provide patients with a scientifically sound explanation for their disease and provide knowledge for a therapeutic strategy to treat ARVC5.

• DFG Programme: Research Grants