Our department offers genetic diagnostics for inborn errors of mitochondrial fatty acid and branched-chain amino acid oxidation that are part of newborn screening programs in many countries, including Denmark. Through our genetic service and research activities, we have collected a unique biobank of skin fibroblasts from patients with rare monogenic defects. The patients’ skin fibroblasts have proven attractive pre-clinical tools to investigate the cell pathological disease mechanisms and evaluate treatment targets and disease triggers.

Examples of projects:

Genetics and mitochondrial targeting treatment

We apply comprehensive OMICs technologies to identify new disease genes, study genotype-phenotype relations, and investigate how mitochondrial supplements, such as riboflavin/vitamin B2, coenzyme Q10 and anaplerotic Krebs cycle supplements can rescue the mitochondrial energy deficiency and oxidative stress that are important cell pathological features of the diseases.

 

Mitochondrial fatty acid oxidation and inflammation

Inflammatory events such as an infection or exercise are among the most important symptom triggers in patients with inborn errors of mitochondrial fatty acid oxidation. We study disturbed inflammatory responses in cells from patients with inborn errors of mitochondrial fatty acid oxidation, and investigate changes in mitochondrial fatty acid oxidation capacity in a septic porcine model to identify new prognostic biomarkers and treatment targets.

 

These and other projects are open for collaboration or student projects. Contact Associate Professor Rikke Katrine Jentoft Olsen, MSc, PhD (rikke.olsen@clin.au.dk).