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Characterization of the retinal pigment epithelium in Friedreich ataxia.
Crombie, Duncan E; Van Bergen, Nicole; Davidson, Kathryn C; Anjomani Virmouni, Sara; Mckelvie, Penny A; Chrysostomou, Vicki; Conquest, Alison; Corben, Louise A; Pook, Mark A; Kulkarni, Tejal; Trounce, Ian A; Pera, Martin F; Delatycki, Martin B; Pébay, Alice.
Affiliation
  • Crombie DE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Van Bergen N; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Davidson KC; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Anjomani Virmouni S; Division of Biosciences, Department of Life Sciences, College of Health & Life Sciences & Synthetic Biology Theme, Institute of Environment, Health & Societies, Brunel University London, Uxbridge, UK.
  • Mckelvie PA; St. Vincents Hospital, Fitzroy , Australia.
  • Chrysostomou V; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Conquest A; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Corben LA; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville Victoria, Australia; Department of Paediatrics, The University of Melbourne, Australia.
  • Pook MA; School of Psychological Sciences , Monash University, Clayton, Australia.
  • Kulkarni T; Division of Biosciences, Department of Life Sciences, College of Health & Life Sciences & Synthetic Biology Theme, Institute of Environment, Health & Societies, Brunel University London, Uxbridge, UK.
  • Trounce IA; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Pera MF; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  • Delatycki MB; Department of Anatomy and Neurosciences, The University of Melbourne, Florey Neuroscience and Mental Health Institute, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.
  • Pébay A; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville Victoria, Australia; Department of Paediatrics, The University of Melbourne, Australia.
Biochem Biophys Rep ; 4: 141-147, 2015 Dec.
Article in En | MEDLINE | ID: mdl-29124197
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.
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Full text: 1 Database: MEDLINE Language: En Year: 2015 Type: Article
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Full text: 1 Database: MEDLINE Language: En Year: 2015 Type: Article