The Paper No One Is Paying Attention To
Maybe We Were Right All Along
If you read my HD primer, you came away understanding that Huntington’s disease is not a simple story of a bad protein causing bad things. It’s a cascade of a molecular domino sequence that begins with a CAG repeat expansion and ends, years or decades later, in the death of medium spiny neurons in the striatum. The question the field has spent forty years failing to answer cleanly is: which domino is the critical one?
A couple of days ago, two papers published simultaneously in Science Translational Medicine (one of the most prestigious translational research journals in existence) give the clearest answer to date. If you’ve been following the AMT-130 thesis, the answer should stop you in your tracks.