Mitochondrial diseases About themeThis theme, which is closely associated with the Radboud Center for Mitochondrial Medicine (RCMM), aims to understand cellular bio-energetics in health and disease at all levels of complexity. This will enable the development of preventive measures and help to make substantial contributions to the development of rational treatment strategies for mitochondrial diseases. The theme’s strategy is founded on the understanding that true innovation in healthcare requires the full integration of unbiased fundamental research at all levels of complexity. Only then can we increase knowledge, accomplish innovation in personalized diagnostics, perform high-quality clinical research and realize applications to patient care.
The theme Mitochondrial diseases concentrates on three research topics:
- The structure and function of molecules and complexes
- Cellular consequences
- Clinical aspects of mitochondrial disorders.
- We aim to identify new gene defects in the oxidative phosphorylation system and to characterize the cellular mechanisms involved.
- We aim to elucidate the molecular mechanism and regulation of mitochondrial complex I based on the atomic structure.
- We aim to resolve the complete assembly pathway of mitochondrial complex I and to identify and functionally characterize new components of the assembly machinery.
- We will study the dynamics of the mitochondrial complexome in health and disease.
- We will explore the tissue-specific inventory and regulation of the complexes of oxidative phosphorylation and their correlation with specific phenotypes.
- We will investigate the links and mechanisms connecting genetic defects with organ-specific disease phenotypes.
- We will further develop tools to monitor the metabolic state and bio-energetic status of mitochondria in living cells and tissues.
- We will study the influence of environmental factors on the progression of mitochondrial disease.
- We will develop a toolbox of biomarkers and relevant clinical outcome measures to monitor progression of mitochondrial disease and the effect of therapeutic interventions.
- We will perform long-term follow-up studies on defined patient cohorts.
- We will explore new therapeutic approaches to mitochondrial diseases.
Lines of research
Information might be only available in Dutch.
Affiliated institutes and centers
Technology center Mass spectrometry
The Technology Center for Mass Spectrometry offers high-level expertise in bioanalytical mass spectrometry combined with in-depth knowledge on biomedical and clinical applications, embedded in a cutting-edge clinical and fundamental research environment.read more