Diagnostics:
The current diagnostic platform will be expanded with the implementation of transcriptomics and proteomics in collaboration with the CMGG and VIB. We also plan to focus on more organ-specific testing by setting up neuronal iPSCs in which mitochondrial function will, firstly, be evaluated by means of classical biochemical techniques (spectrophotometry, BN-PAGE, oxygen consumption).

Pathophysiology:

The study of pathophysiological processes is initially focused on the amino-acyl tRNA (aARS2) defects. A zebrafish model is being developed for this at the zebrafish core facility (CMGG). More generally, we also want to evaluate whether zebrafish are a useful model organism for the study of mitochondria and mitochondrial disorders, both, caused by, in first time, nDNA related mitochondrial diseases.

Therapy:

The zebrafish models of the aARS2 defects are going to be used to evaluate to what extent administration of amino acids and other cofactors can signify a therapeutic advance.