Mitochondrial disorders are a very heterogeneous group of devastating diseases, which are cause by defects of the oxidative phosphorylation system. The latter is also known as the respiratory chain and provides the eukaryotic cell of the essential energy supply under the form of cellular ATP molecules. The oxidative phosphorylation system itself is under a unique dual genetic control. Genes located in the mitochondrial and nuclear genomes encode for proteins essential for the structure and functioning of this pathway. At this very moment over 1500 genes are already known to be directly or indirectly involved in mitochondrial function. A mutation in any of these will cause a primary mitochondrial disorder. The defects have now emerged as an important cause of human disease as it is estimated to affect approximately 1 in 5000 of the population. The mitochondrial diseases may cause symptoms in any organ or tissue and present at any age. The understanding of these disease pathogenesis is still limited.
We are interested
- in the identification of the gene defect(s) in patients (mtDNA and nuclear genome)
- the study of these defects and genes in patient material
- the use of model systems to document the consequences of these dysfunctions
Investigations of our team and many others will in the end lead to a more optimal diagnose and potential therapeutic options.
Back to top