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Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
  1. L Pianese1,2,
  2. M Turano1,2,
  3. M S Lo Casale1,2,
  4. I De Biase2,
  5. M Giacchetti2,
  6. A Monticelli2,
  7. C Criscuolo3,
  8. A Filla3,
  9. S Cocozza2
  1. 1BioGeM Consortium, c/o Department of Molecular and Cellular Biology and Pathology, Frederico II University, Naples, Italy
  2. 2Department of Molecular and Cellular Biology and Pathology and IEOS, CNR, Federico II University, Naples, Italy
  3. 3Department of Neurology, Federico II University, Naples, Italy
  1. Correspondence to:
 Dr L Pianese
 BioGeM Consortium, c/o Dipartimento di Biologia e Patologia Cellulare e Molecolare, Università “Federico II”, Via S. Pansini, 5, 80131 Napoli, Italy;


The most common causative mutation of Friedreich ataxia (FRDA) is the unstable hyperexpansion of an intronic GAA triplet repeat that impairs frataxin transcription. Using real time quantitative PCR, we showed that FRDA patients had residual levels of frataxin mRNA ranging between 13% and 30% and that FRDA carriers had about 40% of that of controls. Asymptomatic carriers also showed reduced frataxin mRNA levels. We found an inverse correlation between the number of GAA repeats and frataxin mRNA levels. Real-time quantitative PCR may represent an alternative assay for FRDA molecular diagnosis.

  • FRDA, Friedreich ataxia
  • HPRT1, hypoxanthine phosphoribosyltransferase 1
  • PCR, polymerase chain reaction
  • frataxin
  • Friedreich ataxia
  • real time PCR

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  • This work was supported in part by a grant from BioGeM Consortium.

  • Competing interests: none declared