CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome
CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome
Determining the molecular mechanism(s) leading to Purkinje neuron loss in the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS) is limited by the complex morphology of this cell type. Purkinje neurons are notoriously difficult to isolate and maintain in culture presenting considerable difficultly to identify molecular changes in response to expanded CGG repeat (rCGG)-containing mRNA that induces neurotoxicity in FXTAS. Several studies have uncovered a number of RNA-binding proteins involved in translation that aberrantly interact with the CGG-containing RNA; however, whether these interactions alter the translational profile of cells has not been investigated. Here we employ bacTRAP translational profiling to demonstrate that Purkinje neurons ectopically expressing 90 CGG repeats exhibit a dramatic change in their translational profile even prior to the onset of rCGG-induced phenotypes. This approach identified ∼500 transcripts that are differentially associated with ribosomes in r(CGG)₉₀-expressing mice. Functional annotation cluster analysis revealed broad ontologies enriched in the r(CGG)₉₀ list, including RNA binding and response to stress. Intriguingly, a transcript for the Tardbp gene, implicated in a number of other neurodegenerative disorders, exhibits altered association with ribosomes in the presence of r(CGG)₉₀ repeats. We therefore tested and showed that reduced association of Tardbp mRNA with the ribosomes results in a loss of TDP-43 protein expression in r(CGG)₉₀-expressing Purkinje neurons. Furthermore, we showed that TDP-43 could modulate the rCGG repeat-mediated toxicity in a Drosophila model that we developed previously. These findings together suggest that translational dysregulation may be an underlying mechanism of rCGG-induced neurotoxicity in FXTAS.
- Baylor College of Medicine United States
- Emory University United States
Molecular Sequence Data, Animals, Genetically Modified, DNA-Binding Proteins, Mice, Inbred C57BL, Disease Models, Animal, Mice, Purkinje Cells, Fragile X Syndrome, Protein Biosynthesis, Tremor, Animals, Drosophila Proteins, Humans, Ataxia, Drosophila, RNA, Messenger, Trinucleotide Repeat Expansion, Ribosomes
Molecular Sequence Data, Animals, Genetically Modified, DNA-Binding Proteins, Mice, Inbred C57BL, Disease Models, Animal, Mice, Purkinje Cells, Fragile X Syndrome, Protein Biosynthesis, Tremor, Animals, Drosophila Proteins, Humans, Ataxia, Drosophila, RNA, Messenger, Trinucleotide Repeat Expansion, Ribosomes
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