How dystroglycan problems disrupt brain synapses
Synaptic dysfunction in models of dystroglycanopathy
This project finds out how defects in dystroglycan lead to abnormal inhibitory connections in the brain that can cause seizures and thinking problems in people with dystroglycanopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oregon Health & Science University NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-11307643 on NIH RePORTER |
What this research studies
Researchers will use mouse models that mimic human dystroglycanopathy and genetic tools to see how dystroglycan helps form and maintain inhibitory synapses in the brain. They will test whether restoring dystroglycan function or related pathways can fix synapse structure and activity. The team will also look for a specific time window when such fixes are most effective. Findings aim to explain why people with dystroglycanopathy develop seizures and cognitive difficulties and to guide future therapies.
Who could benefit from this research
Good fit: People with genetically confirmed dystroglycanopathy or families affected by these forms of congenital muscular dystrophy would be most relevant for future participation, sample donation, or clinical follow-up.
Not a fit: People whose symptoms are caused by conditions unrelated to dystroglycan mutations are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could point to specific targets and timing for treatments to reduce seizures and cognitive problems in people with dystroglycanopathy.
How similar studies have performed: Previous mouse studies have clarified how dystroglycan affects brain development, but strategies to rescue synapse dysfunction and translate them to human therapies remain largely unproven.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: Wright, Kevin — Oregon Health & Science University
- Study coordinator: Wright, Kevin
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.