Mitochondrial diseases: from diagnosis, over pathophysiology, to treatment

04 September 2023 → 03 September 2027
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Laboratory medicine not elsewhere classified
    • Energy metabolism
    • Neurological and neuromuscular diseases
    • Diagnostics not elsewhere classified
    • Laboratory medicine not elsewhere classified
    • Energy metabolism
    • Regulation of metabolism
    • Medical transcriptomics
    • Neurological and neuromuscular diseases
    • Pediatrics
    • Neurological and neuromuscular diseases
    • Neurophysiology
BN-PAGE mitochondrial disease oxygen consumption transcriptomics genome editing of zebrafish to create disease models
Project description

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).


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.


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.