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dc.contributor.authorAnjomani-Virmouni, S-
dc.contributor.authorAl-Mahdawi, S-
dc.contributor.authorSandi, S-
dc.contributor.authorYasaei, H-
dc.contributor.authorGiunti, P-
dc.contributor.authorSlijepcevic, P-
dc.contributor.authorPook, M-
dc.identifier.citationMolecular Neurodegeneration, 10:22, (2015)en_US
dc.description.abstractBackground: Friedreich ataxia (FRDA) is a progressive inherited neurodegenerative disorder caused by mutation of the FXN gene, resulting in decreased frataxin expression, mitochondrial dysfunction and oxidative stress. A recent study has identified shorter telomeres in FRDA patient leukocytes as a possible disease biomarker. Results: Here we aimed to investigate both telomere structure and function in FRDA cells. Our results confirmed telomere shortening in FRDA patient leukocytes and identified similar telomere shortening in FRDA patient autopsy cerebellar tissues. However, FRDA fibroblasts showed significantly longer telomeres at early passage, occurring in the absence of telomerase activity, but with activation of an alternative lengthening of telomeres (ALT)-like mechanism. These cells also showed accelerated telomere shortening as population doubling increases. Furthermore, telomere dysfunction-induced foci (TIF) analysis revealed that FRDA fibroblasts have dysfunctional telomeres. Conclusions: Our finding of dysfunctional telomeres in FRDA cells provides further insight into FRDA molecular disease mechanisms, which may have implications for future FRDA therapy.en_US
dc.description.sponsorshipThis work was supported by funding from the European Union Seventh Framework Programme [FP7/2007-2013] under grant agreement number 242193/EFACTS (CS) and the Wellcome Trust [089757] (SA) to MAP. PG is supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.en_US
dc.publisherBiomed Centralen_US
dc.subjectFriedreich ataxiaen_US
dc.subjectGAA repeat expansionen_US
dc.subjectMouse modelen_US
dc.subjectAlternative lengthening of telomeresen_US
dc.subjectTelomere dysfunctionen_US
dc.titleIdentification of telomere dysfunction in Friedreich ataxia.en_US
dc.relation.isPartOfMol. Neurodegen-
pubs.notesEstimated date added for REF requirements.-
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