Friedreich’s ataxia (FRDA), which is characterised by neurodegeneration and cardiomyopathy, is caused by expanded GAA repeats within the gene encoding frataxin, a conserved mitochondrial protein. This mutation reduces frataxin expression, but the lack of good models has hampered attempts to understand the pathogenesis of FRDA. Hick et al. now describe the derivation of induced pluripotent stem cells (iPSCs) from two patients with FRDA, and differentiation of these iPSCs into neurons and cardiomyocytes. They show that, compared with control iPSC-derived cells, FRDA iPSC-derived neurons and cardiomyocytes exhibit some mitochondrial defects. Furthermore, the expanded GAA repeats show high instability in FRDA iPSCs compared with the differentiated cells. Because the patient-derived differentiated cells described here recapitulate the genetic aspects of FRDA and express measurable phenotypes, these cells should facilitate research into FRDA pathogenesis and treatment. Page 608
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