Microglia's role in C9orf72-linked ALS and frontotemporal dementia
Microglia contribution to disease pathogenesis in C9orf72 ALS/FTD
This work looks at whether immune cells in the brain called microglia drive nerve-cell and synapse loss in people with C9orf72-related ALS and frontotemporal dementia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Joseph's Hospital and Medical Center NIH-funded |
| Lab location | 1 site (Phoenix, United States) |
| Project ID | NIH-11377868 on NIH RePORTER |
What this research studies
From a patient's viewpoint, researchers will compare brain tissue from people with C9orf72 genetic changes to other patient groups to see how microglia behave. They will measure microglial activation and look for signs of synapse loss in affected brain regions tied to thinking and behavior. Laboratory models will be used to test whether altered microglia–neuron interactions cause the synapse pruning that may underlie cognitive problems. The team aims to link specific microglial changes to the cognitive and behavioral features seen in some ALS/FTD patients.
Who could benefit from this research
Good fit: Ideal candidates would be people with ALS or frontotemporal dementia who carry the C9orf72 genetic mutation or families willing to contribute clinical data or tissue for research.
Not a fit: People without C9orf72 mutations or those with unrelated medical conditions are unlikely to see direct benefits from this specific project.
Why it matters
Potential benefit: If successful, this work could point to new targets to slow or prevent synapse loss and cognitive decline in people with C9orf72-linked ALS/FTD.
How similar studies have performed: Previous studies have linked microglial activation and synapse loss to cognitive decline in Alzheimer's and some ALS/FTD cases, but focusing on the C9orf72 mechanism is relatively new.
Where this research is happening
Phoenix, United States
- St. Joseph's Hospital and Medical Center — Phoenix, United States (Active)
Researchers
- Principal investigator: Sattler, Rita — St. Joseph's Hospital and Medical Center
- Study coordinator: Sattler, Rita
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.