I think you might be referring to this.
I’ve tried to capsulize their findings here:
Philip Wong at Johns Hopkins published an article August 7th in Science describing their work with ALS and mice.
“Autopsies of nearly every patient with the lethal neurodegenerative disorder amyotrophic lateral sclerosis (ALS), and many with frontotemporal dementia (FTD), show pathologists telltale clumps of a protein called TDP-43.”… TDP-43 is normally responsible for keeping unwanted stretches of the genetic material RNA, called cryptic exons, from being used by nerve cells to make proteins. But when TDP-43 bunches up inside those cells, it malfunctions, lifting the brakes on cryptic exons and causing a cascade of events that kills brain or spinal cord cells.”
In the brains of healthy people, they saw no cryptic exons.
This finding, the investigators say, suggests that when TDP-43 is clumped together, it no longer works, causing cells to function abnormally as though there’s no TDP-43 at all.”
“We still don’t know why it aggregates in the first place,” he says. Wong’s group is planning studies that may answer these questions, as well as additional tests on how to treat TDP-43 pathology in humans.”
Ice Bucket donations funded this. --Mike
