Characterization of frataxin gene network in Friedreich's ataxia fibroblasts using the RNA-Seq technique

Friedreich's ataxia is an autosomal recessive neurodegenerative disorder associated with an unstable GAA trinucleotide repeat expansion in the first intron of the frataxin gene. This mutation leads to a decrease and partial loss of function of frataxin, a mitochondrial protein involved in heme biosynthesis and cellular iron homeostasis. Since no effective therapy exists for Friedreich's ataxia, new insights into frataxin regulated genes and associated cellular pathways will provide a better understanding of the molecular mechanisms underlying this debilitating condition. In this study, we demonstrate that frataxin regulates the expression of genes involved in interferon-induced apoptosis, DNA damage and blood clotting regulation. This work provides valuable insight into the regulatory network of frataxin and may open new avenues for gene therapy of Friedreich's ataxia.