Mapping and treating metabolic rewiring in mitochondrial disease KU Leuven
The mitochondrial oxidative phosphorylation system (OXPHOS) generates most of the cellular energy in the form of ATP. Pathogenic variants in genes crucial for mitochondrial function cause primary mitochondrial diseases (PMD). PMD form a large, heterogeneous group of disorders that affect at least 1 in 5000 individuals. Patients may present at any age, with symptoms in any organ, at any severity. Due to the diversity in clinical presentation and ...