A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis
- 1 November 1999
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 53 (8) , 1854
- https://doi.org/10.1212/wnl.53.8.1854
Abstract
Article 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.Keywords
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