Understanding how dystrophin affects brain connections
The Role of Dystrophin in Synapse Development
This study looks at how a missing protein called dystrophin, which is important for people with Duchenne muscular dystrophy (DMD), affects brain connections and could help us understand the learning and thinking challenges that come with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Science Center NIH-funded |
| Lab location | 1 site (San Antonio, United States) |
| Project ID | NIH-10990946 on NIH RePORTER |
What this research studies
This research investigates the role of dystrophin, a protein linked to Duchenne muscular dystrophy (DMD), in the development of brain synapses. It focuses on how the absence of dystrophin affects the formation and maintenance of inhibitory synapses, particularly in cerebellar Purkinje cells. By studying mice lacking dystrophin, the research aims to uncover the mechanisms behind cognitive deficits and neurodevelopmental disorders associated with DMD. The findings could lead to new insights into how to support brain health in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Duchenne muscular dystrophy, particularly those experiencing cognitive deficits.
Not a fit: Patients without Duchenne muscular dystrophy or those not experiencing cognitive issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could improve understanding of cognitive challenges in patients with DMD and lead to targeted therapies.
How similar studies have performed: Previous research has shown promising results in understanding the role of dystrophin in muscle tissue, but its implications for brain function are still being explored.
Where this research is happening
San Antonio, United States
- University of Texas Hlth Science Center — San Antonio, United States (Active)
Researchers
- Principal investigator: Pugh, Jason Richard — University of Texas Hlth Science Center
- Study coordinator: Pugh, Jason Richard
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.