Huntingtin is expressed in every cell in the human body. Just shutting down protein expression has been regarded as the singular therapeutic goal in HD, this has become as dogmatic in 2017 as protein aggregation was 1996-.
This work published today suggests long term removal of huntingtin may not be a great idea. We have to enforce that any huntingtin lowering therapy must be reversible and dosable and ideally allele-specific.
This work published two days ago indicates that C9orf72-mediated ALS pathology is through inhibition of ATM kinase, the same complex we defined as inhibited in HD.
It’s time to break down the silos and take off the blinders and promote cross-talk across neurodegeneration. What was heartening about the Alzforum article is that a Alzheimer’s disease writer, was interviewing a HD researcher, about an ALS manuscript. Hopefully we’ll see more of this.
