MODELLING IN YEAST OF THE MITOCHONDRIAL ATP6 GENE MUTATIONS RESPONSIBLE FOR NARP SYNDROME IN HUMANS AND USES THEREOF FOR SCREENING FOR MEDICAMENTS

摘要

Modified yeast cells comprising at least one mutation of the tryptophan 136 (W<SUB>136</SUB>), leucine 183 (L<SUB>183</SUB>), or leucine 247 (L<SUB>247</SUB>) codon of the mitochondrial ATP6 gene, responsible for NARP syndrome in humans and uses thereof for screening for medicaments that act against mitochondrial pathologies involving a deficiency in ATP production via the oxidative phosphorylation pathway, such as NARP syndrome.