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|Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy.
|Crombie, Duncan E;Pera, Martin F;Delatycki, Martin B ;Pébay, Alice
|Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Australia
Ophthalmology, Department of Surgery, The University of Melbourne, Australia
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, Australia
School of Psychology and Psychiatry, Monash University, Australia
Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Department of Anatomy and Neurosciences, The University of Melbourne, Florey Neuroscience & Mental Health Institute, Walter and Eliza Hall Institute of Medical Research, Australia
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Heidelberg, Victoria, Australia
|International journal of cardiology 2016; 212: 37-43
|Friedreich ataxia (FRDA) is the most common of the inherited ataxias. It is an autosomal recessive disease characterised by degeneration of peripheral sensory neurons, regions of the central nervous system and cardiomyopathy. FRDA is usually due to homozygosity for trinucleotide GAA repeat expansions found within first intron of the FRATAXIN (FXN) gene, which results in reduced levels of the mitochondrial protein FXN. Reduced FXN protein results in mitochondrial dysfunction and iron accumulation leading to increased oxidative stress and cell death in the nervous system and heart. Yet the precise functions of FXN and the underlying mechanisms leading to disease pathology remain elusive. This is particularly true of the cardiac aspect of FRDA, which remains largely uncharacterized at the cellular level. Here, we summarise current knowledge on experimental models in which to study FRDA cardiomyopathy, with a particular focus on the use of human pluripotent stem cells as a disease model.
|International journal of cardiology
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checked on Mar 4, 2024
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