Frataxin gene of Friedreich's ataxia is targeted to mitochondria

Ann Neurol. 1997 Aug;42(2):265-9. doi: 10.1002/ana.410420222.


Friedreich's ataxia is caused by a triplet repeat expansion in intron 1, a noncoding region of the frataxin gene (X25). We have generated a chimeric gene composed of the frataxin gene fused with the green fluorescent protein (GFP) gene as a reporter. Transfection of the fusion construct into living COS cells revealed that the frataxin-GFP construct localizes to organelles that double-label with 8-(4'-chloromethyl) phenyl-2,3,5,6,11,12,14,15-octahydro-1H,4H,10H-13H-diquinolizin o-8H-xanthylium chloride (CMXRos), a novel mitochondrial dye. Thus, frataxin appears to be a nuclear-encoded mitochondrial protein.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • COS Cells
  • Friedreich Ataxia / enzymology
  • Friedreich Ataxia / genetics*
  • Green Fluorescent Proteins
  • Humans
  • Introns
  • Iron-Binding Proteins*
  • Luminescent Proteins / biosynthesis
  • Mitochondria / enzymology*
  • Organelles / metabolism
  • Phosphotransferases (Alcohol Group Acceptor) / biosynthesis*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Recombinant Fusion Proteins / biosynthesis
  • Succinate Dehydrogenase / biosynthesis
  • Transfection
  • Trinucleotide Repeats*


  • Iron-Binding Proteins
  • Luminescent Proteins
  • Recombinant Fusion Proteins
  • frataxin
  • Green Fluorescent Proteins
  • Succinate Dehydrogenase
  • Phosphotransferases (Alcohol Group Acceptor)