The MELAS syndrome is a mitochondrial disease with a partly neuromuscular expression and is related, in the vast majority of cases, to a point mutation (m.3243A>G) of the mitochondrial DNA. French specialists report laboratory work on a cellular model of the disease (cybrid cells with different levels of heteroplasmy of this mutant).
- A multi-omics approach was applied to this model.
- Glutamate concentration was found to be highly correlated with the level of heteroplasmy.
- Transcriptomic analysis revealed perturbations of other metabolic pathways such as gamma-amino-butyric acid and tricarboxylic acid.
- These results were confirmed by an autopsy study on a patient’s brain.
- The model cells subjected to a diet rich in ketones saw their glutamate levels drop, opening the way to possible therapeutic developments.
