RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila (review)

Jin et al. have clearly demonstrated that rCGG repeats can induce pathogenesis and mediate neurodegeneration in Drosophila. This suggests that pathogenesis in FXTAS occurs via a dominant RNA-mediated mechanism, which is distinct from the loss of function which causes fragile X syndrome. This puts FXTAS in the same category as myotonic dystrophy, along with a growing list of disorders caused by repeat expansions in RNA. Studies subsequent to that by Jin et al. have demonstrated that not all expanded repeats can cause degeneration in the Drosophila system, and that sequences outside of the repeat can modulate their toxicity. How the rCGG repeats mediate neurodegeneration in FXTAS remains to be determined, and further commonalitites shared between FXTAS and other expanded repeat diseases may yet be revealed. © 2005 Data Trace Publishing Company