Crombie 2015 Biochem Biophys Rep

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Crombie DE, van Bergena N, Davidsona KC, Anjomani Virmounib S, Mckelviec PA, Chrysostomoua V, Conquesta A, Corbend LA, Pookb MA, Kulkarnia T, Trouncea IA, Peraf MF, Delatyckid MB, Pébaya A (2015) Characterization of the retinal pigment epithelium in Friedreich ataxia. Biochem Biophys Rep 4:141–7.

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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, Pebay A (2015) Biochem Biophys Rep

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, Induced pluripotent stem cells, Retinal pigment epithelium, Human eye, Mouse models, Oxidative phosphorylation

O2k-Network Lab: AU Melbourne Trounce IA


Labels: MiParea: Respiration, nDNA;cell genetics, Genetic knockout;overexpression, Patients  Pathology: Neurodegenerative 

Organism: Human  Tissue;cell: Nervous system, Endothelial;epithelial;mesothelial cell, Stem cells  Preparation: Permeabilized cells 


Coupling state: LEAK, OXPHOS, ET  Pathway: N, S, NS, ROX  HRR: Oxygraph-2k