Figure 5.

Mutation in the FXN gene in the pathogenesis of FRDA. An absence or deficiency of frataxin protein contributes to the disruption of FeS clusters biogenesis, disrupting oxidative OXPHOS. In addition, the protein deficiency also contributes to abnormal accumulation of iron and mitochondrial impairment, leading to excessive production of ROS. ATP, adenosine triphosphate; FXN, frataxin; FeS, iron-sulfur; MMP, mitochondrial membrane potential; OXPHOS, oxidative phosphorylation; ROS, reactive oxygen species.