A new mouse model shows mild motor and protein changes linked to C9orf72 ALS and FTD
Original source
C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Mouse
Population inferred from the title and abstract by Compass.
Related topics
Researchers created mice producing poly(glycine-alanine), a protein made from C9orf72 repeat expansions. The mice developed subtle rotarod performance problems and changes in spinal-cord proteins, but no obvious neuropathological changes through 18 months of age. The model is intended for studying how this protein contributes to disease.
Why this matters
This may provide researchers with a tool to investigate C9orf72-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), including the protein’s interactions in the spinal cord. It does not change treatment for people with ALS or FTD, because the findings were produced in mice and did not test a therapy.
Limitations and context
This was a primary research study in genetically engineered mice, not a clinical study in people. The observed motor impairment was mild, and the mice had no overt neuropathological alterations. Whether the model accurately reflects human C9orf72 disease or can help identify effective treatments still needs to be shown.