Neurologic orphan diseases: Emerging innovations and role for genetic treatments

Figure 3 Frataxin protein dysregulation. The 2100 amino acid protein frataxin is encoded within the first intron of the FXN gene on chromosome 9q13. Due to trinucleotide repeat expansions ranging from approximately 44–1700 “GAA” triplet sequences, affected individuals experience numerous characteristic signs and symptoms of Friedreich Ataxia. At the cellular level, dysregulation of this small mitochondrial protein results in the overproduction of iron-sulfur clusters, free radical oxidative stress, and mitochondrial iron overload[75]. FXN: Frataxin; ROS: Reactive oxygen species.