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Title: Characterization of the retinal pigment epithelium in Friedreich ataxia
Authors: Crombie, DE
Van Bergen, N
Davidson, KC
Anjomani Virmouni, S
Mckelvie, PA
Chrysostomou, V
Conquest, A
Corben, LA
Pook, MA
Kulkarni, T
Trounce, IA
Pera, MF
Delatycki, MB
Pébay, A
Keywords: Friedreich ataxia;Induced pluripotent stem cells;Retinal pigment epithelium;Human eye;Mouse models;Oxidative phosphorylation
Issue Date: 2015
Citation: Biochemistry and Biophysics Reports, 4, pp. 141-147, (2015)
Abstract: 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.
ISSN: 2405-5808
Appears in Collections:Dept of Life Sciences Research Papers

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