Mouse study points to repeat proteins as the main harm in C9orf72 ALS
- Study published
- Added to this website
The C9orf72 expansion produces two possibly harmful things: repeat RNA, and short repeat proteins (dipeptide repeat proteins) made from that RNA. Researchers have long asked which of the two drives the disease.
This team changed a single genetic start signal that cells use to begin making the repeat proteins. In mice, protein production dropped while the repeat RNA stayed. The mice had fewer behavioural problems, less TDP-43 protein build-up, less motor neuron loss and inflammation, and lower blood neurofilament. Editing the same signal in nerve cells grown from patients' stem cells improved their survival.
The results suggest that blocking repeat-protein production, rather than removing the RNA, could be a treatment strategy worth developing.
What this does not show
This was done in mice and cells, not people. No treatment based on it has been tested in humans, and gene editing of this kind is far from clinical use.
Source
Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes
This summary explains a single study. It is not medical advice and does not say what applies to any one person. Talk to your ALS care team before making decisions about treatment or trials.