Inborn enzyme defects of the mitochondrial respiratory chain (RC) or of fatty acid ß-oxidation (FAO) form a large family of rare genetic disorders that are associated with life-threatening pediatric presentations or with milder phenotypes. The patients have variable ages of onset and severity of disease, which may include myopathy and neuro-metabolic disorders. Advances in diagnosis have revealed a large number of disease-causing genes and associated mutations and have led to a continuous increase in the number of patients. However, little progress has been made in treatment, and the majority of these diseases are incurable.

For many years, our group has been dedicated to the screening of candidate molecules, drugs or natural compounds, based on their presumed mechanism of action, that might correct FAO or RC disorders. The development of new therapeutic strategies also involves the identification of new therapeutic targets, in diverse signaling pathways, which are known as regulators of energy metabolism. Thus, our group has demonstrated, using bezafibrate or resveratrol, that a target-based pharmacological strategy can result in the up-regulation of the residual mutated protein and can be successful in the correction of some inborn FAO or RC mitochondrial disorders.

Our research is performed mainly ex vivo on panels of FAO- or RC-deficient patients’ fibroblasts which harbor known mutations. This approach allows the pre-clinical evaluation of the compounds tested in a context of personalized medicine.



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