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

Authors
Ohshima, K Sakamoto, N Labuda, M Poirier, J Moseley, ML Montermini, L Ranum, LPW Wells, RD Pandolfo, M
Citation
K. Ohshima et al., A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis, NEUROLOGY, 53(8), 1999, pp. 1854-1857
Citations number
9
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
53
Issue
8
Year of publication
1999
Pages
1854 - 1857
Database
ISI
SICI code
0028-3878(19991110)53:8<1854:ANGRIT>2.0.ZU;2-V
Abstract
An individual with late-onset ataxia was found to be heterozygous for an un usual (GAAGGA)(65) sequence and a normal GAA repeat in the frataxin gene. N o frataxin point mutation was present, excluding a form of Friedreich ataxi a. (GAAGGA)(65) did not have the inhibitory effect on gene expression in tr ansfected cells shown by pathogenic GAA repeats of similar length. GAA repe ats, but not (GAAGGA)(65), adopt a triple helical conformation in vitro. We suggest that such a tripler structure is essential for suppression of gene expression.