Pathomechanisms and Treatment
This work package aims to improve understanding of key molecular and biochemical mechanisms responsible for mitochondrial disease as a prerequisite for the identification of new drug targets and the development of novel treatments. Disease validation, pathophysiologic investigations, and analysis of new treatment strategies are consecutive steps to achieve this goal.
Existing cellular models will be used to evaluate the functional significance of rare gene variants. For a significant proportion of identified gene defects, no functional test is readily available. Therefore, we will develop new functional assays, which are needed to determine the function of novel disease associated genes. Such assays will permit confident determination that a rare variant in a (novel) gene is the cause of a given patient’s mitochondrial dysfunction and provide insight into new molecular pathways or the extension of known pathways.
The subproject is coordinated by Salzburger Landeskliniken (SALK), in cooperation with partners Klinikum rechts der Isar (IHG TUM-MED, Munich), Institute Imagine (INSERM, Paris), Foundation IRCCS Neurological Institute C. Besta (Milan), Newcastle University (WCMR) and Chiba Children´s Hospital (CCH, Chiban, Japan).