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- W1515193115 abstract "Friedreich ataxia (FRDA), is a neurodegenerative disease accompanied by hypertrophic cardiomyopathy. FRDA patients suffer an unrelenting progressive ataxia and most eventually succumb to cardiac failure. Most FRDA patients are homozygous for large GAA•TTC repeat expansions in the intron 1 of the FXN gene. Disease severity directly correlates to the size of the repeat expansion, which represses FXN gene expression by a mechanism that is still unclear. In order to investigate this inhibition by expanded GAA•TTC repeats, we designed a splicing FXN minigene construct carrying two reporters under the control of a bi-directional tetracycline inducible promoter. We then used the Invitrogen Flp-In system to integrate our constructs carrying GAA•TTC repeats of varying sizes into a unique chromosomal location in cell lines. Surprisingly, repeats as large as 352 do not cause decreased transcription in our system. However, repeat lengths between 700–1000 showed marked transcription inhibition, suggesting a larger disease threshold than presently believed. We are using this tool to better define the disease threshold and the possible role of co-transcriptional events in transcription inhibition. These cell lines will also serve as a high throughput assay for testing therapeutic interventions. This work was supported by NIH grant number R01NS046567 and by a grant from the Friedreich's Ataxia Research Alliance (FARA)." @default.
- W1515193115 created "2016-06-24" @default.
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- W1515193115 date "2008-03-01" @default.
- W1515193115 modified "2023-09-26" @default.
- W1515193115 title "A novel reporter system to investigate the molecular cause of Friedreich Ataxia" @default.
- W1515193115 doi "https://doi.org/10.1096/fasebj.22.1_supplement.781.1" @default.
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