A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

K. Ohshima, N. Sakamoto, M. Labuda, J. Poirier, M. L. Moseley, L. Montermini, L. P.W. Ranum, R. D. Wells, Massimo Pandolfo

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

An individual with late-onset ataxia was found to be heterozygous for an unusual (GAAGGA)65 sequence and a normal GAA repeat in the frataxin gene. No frataxin point mutation was present, excluding a form of Friedreich ataxia. (GAAGGA)65 did not have the inhibitory effect on gene expression in transfected cells shown by pathogenic GAA repeats of similar length. GAA repeats, but not (GAAGGA)65, adopt a triple helical conformation in vitro. We suggest that such a triplex structure is essential for suppression of gene expression.

Original languageEnglish (US)
Pages (from-to)1854-1857
Number of pages4
JournalNeurology
Volume53
Issue number8
DOIs
StatePublished - Nov 10 1999

Keywords

  • Friedreich ataxia
  • GAA triplet repeats
  • Hexanucleotide repeats
  • Transcription

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