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Crombie DE, Van Bergen N, Davidson KC, et al. Characterization of the retinal pigment epithelium in Friedreich ataxia. Biochem Biophys Rep. 2015;4:141-147doi: 10.1016/j.bbrep.2015.09.003.
Crombie, D. E., Van Bergen, N., Davidson, K. C., Anjomani Virmouni, S., Mckelvie, P. A., Chrysostomou, V., Conquest, A., Corben, L. A., Pook, M. A., Kulkarni, T., Trounce, I. A., Pera, M. F., Delatycki, M. B., & Pébay, A. (2015). Characterization of the retinal pigment epithelium in Friedreich ataxia. Biochemistry and biophysics reports, 4141-147. https://doi.org/10.1016/j.bbrep.2015.09.003
Crombie, Duncan E, et al. "Characterization of the retinal pigment epithelium in Friedreich ataxia." Biochemistry and biophysics reports vol. 4 (2015): 141-147. doi: https://doi.org/10.1016/j.bbrep.2015.09.003
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. Characterization of the retinal pigment epithelium in Friedreich ataxia. Biochem Biophys Rep. 2015 Sep 11;4:141-147. doi: 10.1016/j.bbrep.2015.09.003. eCollection 2015 Dec. PMID: 29124197; PMCID: PMC5668915.
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Biochem Biophys Rep. 2015 Sep 11;4:141-147. doi: 10.1016/j.bbrep.2015.09.003. eCollection 2015 Dec.

Characterization of the retinal pigment epithelium in Friedreich ataxia.

Biochemistry and biophysics reports

Duncan E Crombie, Nicole Van Bergen, Kathryn C Davidson, Sara Anjomani Virmouni, Penny A Mckelvie, Vicki Chrysostomou, Alison Conquest, Louise A Corben, Mark A Pook, Tejal Kulkarni, Ian A Trounce, Martin F Pera, Martin B Delatycki, Alice Pébay

Affiliations

  1. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.
  2. 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.
  3. St. Vincents Hospital, Fitzroy , Australia.
  4. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville Victoria, Australia; Department of Paediatrics, The University of Melbourne, Australia.
  5. School of Psychological Sciences , Monash University, Clayton, Australia.
  6. 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.
  7. Clinical Genetics, Austin Health, Heidelberg, Australia.

PMID: 29124197 PMCID: PMC5668915 DOI: 10.1016/j.bbrep.2015.09.003

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.

Keywords: Friedreich ataxia; Human eye; Induced pluripotent stem cells; Mouse models; Oxidative phosphorylation; Retinal pigment epithelium

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