Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous, and cardiovascular systems with progressive worsening of the symptoms over the years. This review summarizes recent progress that was achieved in understanding of molecular mechanism of the disease over the last few years and latest treatment strategies focused on overcoming the frataxin deficiency. © 2023 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society and the Royal Society of Biology.
Citation
Maria M Krasilnikova, Casey L Humphries, Emily M Shinsky. Friedreich's ataxia: new insights. Emerging topics in life sciences. 2023 Dec 14;7(3):313-323
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PMID: 37698160
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