Characterization of the retinal pigment epithelium in Friedreich ataxia

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 co...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668915/
https://www.ncbi.nlm.nih.gov/pubmed/29124197
http://dx.doi.org/10.1016/j.bbrep.2015.09.003
Descripción
Sumario: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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