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Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial protein involved in iron-sulfur cluster biosynthesis. This mutation leads to partial gene silencing and substantial reduction of the frataxin level. To overcome limitations of current cellular models of FRDA, we derived induced pluripotent stem cells (iPSCs) from two FRDA patients and successfully differentiated them into neurons and cardiomyocytes, two affected cell types in FRDA.

Read More: Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia


About the Author

Jen Farmer

Jen Farmer

Executive Director

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