Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain

• DOI: 10.1371/journal.pone.0101718
• Publication Date: 2014-07-07T17:35:53Z
• Authors: Matthew J. Bird; Karina Needham; Ann E. Frazier; Jorien van Rooijen; Jessie Leung; Shelley Hough; Mark Denham; Matthew E. Thornton; Clare L. Parish; Bryony A. Nayagam; Martin Pera; David R. Thorburn; Lachlan H. Thompson; Mirella Dottori
• Keywords: Frataxin

Friedreich ataxia (FRDA) is an autosomal recessive disease characterised by neurodegeneration and cardiomyopathy that caused insufficiency of the mitochondrial protein, frataxin. Our previous studies described generation FRDA induced pluripotent stem cell lines (FA3 FA4 iPS) retained genetic characteristics this disease. Here we extend these studies, showing neural derivatives FA iPS cells are able to differentiate into functional neurons, which don't show altered susceptibility death, have normal function. Furthermore, iPS-derived progenitors neurons integrate in nervous system when transplanted cerebellar regions host adult rodent brain. These first describe both vitro vivo characterization demonstrate their capacity survive long term. findings highly significant for developing therapies using patient-derived cells.