. Neurodegenerative disease: RNA repeats put a freeze on cells. Nature. 2017 Jun 8;546(7657):215-216. Epub 2017 May 31 PubMed.

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  1. For those of us in the Huntington’s disease field, this finding provides a new twist to a complicated and continually evolving story. The work of Jain and Vale provides a cogent explanation for the long-standing observation of RNA-rich nuclear bodies that are observed in repeat expansion disorders. including HD. What's intriguing is the possibility that these RNA bodies recruit splice factors and enable post-transcriptional processing of repeat expanded RNA. Might transcripts of mutant N-terminal protein fragments of huntingtin be born in these RNA bodies? And if so, as Jain and Vale point out, there might be good reason to target these RNA bodies from a therapeutic standpoint. At a minimum, this is an intriguing observation that provides the HD field with a new hook to approach the problem. It also unifies the RNA and protein worlds through the concept of multivalency.

    Of course, the money question is, why are diseases such as HD progressive aging onset disorders? This work doesn't shed light on this issue, but integrating these RNA bodies into a larger systems-centric cellular homeostasis viewpoint might help. It might also help to ask about the neuronal specificity of the formation of these RNA bodies, with a focus on medium spiny versus other neuronal types with regard to HD. Exciting findings open new doors and that's certainly the case with this new work of Jain and Vale.  

    View all comments by Rohit Pappu

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