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Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich''s Ataxia Patients: Cellular Model of Pathology

The neurodegenerative disease Friedreich's ataxia (FRDA) is the most common autosomal-recessively inherited ataxia and is caused by a GAA triplet repeat expansion in the first intron of the frataxin gene. In this disease, transcription of frataxin, a mitochondrial protein involved in iron homeostasis, is impaired, resulting in a significant reduction in mRNA and protein levels. Global gene expression analysis was performed in peripheral blood samples from FRDA patients as compared to controls, which suggested altered expression patterns pertaining to genotoxic stress.

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich''s Ataxia Patients: Cellular Model of Pathology


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Jen Farmer

Jen Farmer

Executive Director

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