A mouse model combines C9orf72 repeat expression with reduced C9orf72 levels
Original source
Intrathecal (G4C2)149 delivery in C9orf72-deficient mice yields mild motor dysfunction and ALS/FTD pathological hallmarks. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Mouse
- Peer review
- Preprint, not yet peer reviewed
Population inferred from the title and abstract by Compass.
Related topics
Researchers used neonatal intrathecal delivery to express 149 G4C2 repeats throughout the central nervous system of mice with differing levels of C9orf72. The mice developed mild, progressive muscle weakness, along with ALS/FTD-associated protein and glial changes in spinal motor regions. Coordination deficits were linked mainly to the mice’s C9orf72 genotype.
Why this matters
This model may help researchers study how C9orf72 repeat expression and reduced C9orf72 function contribute to disease. It is an early laboratory finding in mice and does not change treatment for people with ALS or frontotemporal dementia.
Limitations and context
The work is a preprint rather than a completed peer-reviewed publication. It studied mice, used neonatal gene delivery, and produced mild motor effects, so the findings may not represent human disease or predict treatment benefit.