Mitochondrial diseases are often caused by mutations in enzymes required for the expression of the second genome in our cells, the mitochondrial DNA. The genes encoded in the mtDNA are strictly required for O2 coupled energy production. But mitochondrial gene expression disorders are characterised by a very heterogeneous clinical presentation that cannot be explained by simple loss of energy production. Instead, it suggests that dependent on the specific defect in mitochondrial gene expression, very different molecular aberrations and cellular consequences occur. The lack of understanding of these molecular mechanisms is clearly one reason for that there are still no curative treatments for this group of disorders. The two specific goals of our research are:
- better our understanding of the primary molecular aberrations in mitochondrial gene expression disease by investigating dedicated quality control mechanisms and
- to identify the signalling network(s) that communicate distinct aberrations in mitochondrial gene expression to the nucleo-cytoplasmic gene expression machinery.
Such knowledge will be instrumental to find novel targets for improved diagnostics and pharmacological treatments for patients with no treatment option to date.