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:
Such knowledge will be instrumental to find novel targets for improved diagnostics and pharmacological treatments for patients with no treatment option to date.