Finding ways to improve SMN protein levels in spinal muscular atrophy
Genetic Suppression of SMN Mutations in Spinal Muscular Atrophy
This study is looking at ways to improve a protein that's important for muscle health in people with spinal muscular atrophy (SMA) by testing new treatments that could help fix problems caused by certain gene mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project ID | NIH-10884302 on NIH RePORTER |
What this research studies
This research investigates how to enhance the function of the SMN protein, which is crucial for muscle health, in patients with spinal muscular atrophy (SMA). By studying specific mutations in the SMN1 gene and their effects on protein function, researchers aim to identify potential treatments that could restore normal protein levels. The approach involves using genetically modified mice and cell cultures to test the effectiveness of identified suppressors that may help overcome the deficiencies caused by these mutations. This could lead to new therapeutic strategies for SMA patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with spinal muscular atrophy, particularly those with specific mutations in the SMN1 gene.
Not a fit: Patients with spinal muscular atrophy who do not have SMN1 mutations or those with advanced stages of the disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to innovative treatments that improve muscle function and survival in patients with spinal muscular atrophy.
How similar studies have performed: Previous research has shown promise in using genetic approaches to enhance SMN protein levels, indicating that this line of investigation could lead to significant advancements in SMA treatment.
Where this research is happening
Columbus, UNITED STATES
- Ohio State University — Columbus, United States (Active)
Researchers
- Principal investigator: Burghes, Arthur H. M. — Ohio State University
- Study coordinator: Burghes, Arthur H. M.
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.