Longer C9orf72 repeats worsened disease features in transgenic mice
Original source
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human, Mouse
Related topics
Longer G4C2 repeat expansions caused earlier onset and more severe disease features in mice modelling C9orf72 amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mice also showed more RNA foci and dipeptide repeat protein aggregates. Changes in RNA splicing appeared early and increased as disease progressed.
Why this matters
The findings suggest repeat length may help explain differences in disease severity in C9orf72 ALS/FTD and could help identify early disease markers. This was an animal study, so it does not change treatment for people with ALS or FTD.
Limitations and context
The study used BAC transgenic mice rather than people. The findings still need to be confirmed in human studies before the proposed splicing changes can be considered reliable clinical biomarkers or used to guide care.