J Pharmacol Exp Ther 2019 04 11;369(1):47-54. Epub 2019 Jan 11.
Department of Pathology and Laboratory Medicine, Children's Hospital Philadelphia, Philadelphia, Pennsylvania (M.G.C., S.X., D.L., T.L., R.B.W.); The Penn Medicine/CHOP Center of Excellence for Friedreich's Ataxia Research, Philadelphia, Pennsylvania (M.G.C., S.X., D.L., T.L., R.B.W.); Department of Chemistry, University of Pittsburgh, Pittsburgh, Pennsylvania (L.T., P.W.); Department of Chemistry (D.M.H.), and Perelman School of Medicine (R.B.W.), University of Pennsylvania, Philadelphia, Pennsylvania
Friedreich ataxia (FRDA) is a progressive neuro- and cardio-degenerative disorder characterized by ataxia, sensory loss, and hypertrophic cardiomyopathy. In most cases, the disorder is caused by GAA repeat expansions in the first introns of both alleles of the gene, resulting in decreased expression of the encoded protein, frataxin. Frataxin localizes to the mitochondrial matrix and is required for iron-sulfur-cluster biosynthesis. Read More