Friedreich's ataxia: new insights
Maria M. Krasilnikova, Casey L. Humphries, Emily M. Shinsky
Abstract
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.
Topics & Concepts
FrataxinAtaxiaDiseaseNeuroscienceTrinucleotide repeat expansionBiologyBioinformaticsMedicineGeneticsGeneIron-binding proteinsInternal medicineAlleleGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyNeurological disorders and treatments