Characterization of the retinal pigment epithelium in Friedreich ataxia

Duncan Edward Crombie, Nicole J Van Bergen, Kathryn Cherise Davidson, Sara Anjomani-Virmouni, Penny A McKelvie, Vicki Chrysostomou, Alison Conquest, Louise Anne Corben, Mark A Pook, Tejal Kulkarni, Ian A Trounce, Martin Frederick Pera, Martin Delatycki, Alice Pebay

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3 Citations (Scopus)


We assessed structural elements of the retina in individuals with Friedreich ataxia (FRDA) and in mouse models of FRDA, as well as functions of the retinal pigment epithelium (RPE) in FRDA using induced pluripotent stem cells (iPSCs). We analyzed the retina of the FRDA mouse models YG22R and YG8R containing a human FRATAXIN (FXN) transgene by histology. We complemented this work with post-mortem evaluation of eyes from FRDA patients. Finally, we derived RPE cells from patient FRDA-iPSCs to assess oxidative phosphorylation (OXPHOS) and phagocytosis. We showed that whilst the YG22R and YG8R mouse models display elements of retinal degeneration, they do not recapitulate the loss of retinal ganglion cells (RGCs) found in the human disease. Further, RPE cells differentiated from human FRDA-iPSCs showed normal OXPHOS and we did not observe functional impairment of the RPE in Humans
Original languageEnglish
Pages (from-to)141 - 147
Number of pages7
JournalBiochemistry and Biophysics Reports
Publication statusPublished - 2015

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