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

doi:10.1016/j.bbrep.2015.09.003

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

School of Psychological Sciences

Research output: Contribution to journal › Article › Research › peer-review

7 Citations (Scopus)

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

Original language	English
Pages (from-to)	141-147
Number of pages	7
Journal	Biochemistry and Biophysics Reports
Volume	4
DOIs	https://doi.org/10.1016/j.bbrep.2015.09.003
Publication status	Published - 2015

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Crombie, D. E., Van Bergen, N. J., 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., & Pebay, A. (2015). Characterization of the retinal pigment epithelium in Friedreich ataxia. Biochemistry and Biophysics Reports, 4, 141-147. https://doi.org/10.1016/j.bbrep.2015.09.003

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title = "Characterization of the retinal pigment epithelium in Friedreich ataxia",

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",

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

year = "2015",

doi = "10.1016/j.bbrep.2015.09.003",

language = "English",

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pages = "141--147",

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Crombie, DE, Van Bergen, NJ, Davidson, KC, Anjomani-Virmouni, S, McKelvie, PA, Chrysostomou, V, Conquest, A, Corben, LA, Pook, MA, Kulkarni, T, Trounce, IA, Pera, MF, Delatycki, M & Pebay, A 2015, 'Characterization of the retinal pigment epithelium in Friedreich ataxia', Biochemistry and Biophysics Reports, vol. 4, pp. 141-147. https://doi.org/10.1016/j.bbrep.2015.09.003

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AU - Van Bergen, Nicole J

AU - Davidson, Kathryn Cherise

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AU - Chrysostomou, Vicki

AU - Conquest, Alison

AU - Corben, Louise Anne

AU - Pook, Mark A

AU - Kulkarni, Tejal

AU - Trounce, Ian A

AU - Pera, Martin Frederick

AU - Delatycki, Martin

AU - Pebay, Alice

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