Just weeks ago we brought you two exciting new stories about C9ORF72 (if you missed them, you should check out Dr. Amber Dance’s summaries of the Science and Neuron stories), both of which suggested that surprisingly the hexanucleotide repeat expansion in C9ORF72 is translated into dipeptide repeat (DPR) proteins. Although these studies provided some exciting food for thought about how the hexanucleotide repeats in C9ORF72 could be causing toxicity, the jury is still undecided about C9ORF72’s exact mechanism of toxicity. Now, in yet another twist, new research out of the Emory University School of Medicine suggests that that the RNA transcribed from the hexanucleotide repeat in C9ORF72 gene might itself be toxic. How can RNA be toxic? The researchers found that the hexanucleotide repeat RNA acts as an “RNA sponge” to sequester important RNA binding proteins, resulting in neurodegeneration. Interested in finding out which RNA binding protein the researchers believe is the toxic culprit? Click here.
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