Paediatrics (RCH) - Research Publications

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Author: Pebay, Alice × Author: Trounce, Ian × Author: van Bergen, Nicole ×

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    Characterization of the retinal pigment epithelium in Friedreich ataxia.
    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 (Elsevier BV, 2015-12)
    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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    Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy
    Wong, RCB ; Lim, SY ; Hung, SSC ; Jackson, S ; Khan, S ; Van Bergen, NJ ; De Smit, E ; Liang, HH ; Kearns, LS ; Clarke, L ; Mackey, DA ; Hewitt, AW ; Trounce, IA ; Pebay, A (IMPACT JOURNALS LLC, 2017-04)
    Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.