How RNA problems cause nerve and muscle damage in spinal muscular atrophy
RNA-Mediated Mechanisms of Motor System Dysfunction in Spinal Muscular Atrophy
This project looks at how RNA-related problems lead to nerve and muscle damage in people with spinal muscular atrophy to help find better treatment targets.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11285173 on NIH RePORTER |
What this research studies
If you live with SMA, this work explores why nerves and muscles weaken even when SMN-boosting therapies are used. The team uses mouse models and laboratory studies of nerve and muscle tissue to trace how low SMN levels cause errors in RNA splicing and other RNA processes that harm motor neurons and neuromuscular junctions. They pay special attention to connections between sensory and motor neurons that break down early in the disease and test molecular ways to correct RNA pathways. The goal is to identify targets that could be combined with current treatments to improve strength and movement.
Who could benefit from this research
Good fit: People with spinal muscular atrophy—especially those who still have motor deficits after approved SMN-increasing treatments or who started treatment later—would be most relevant.
Not a fit: People without SMA or those whose symptoms are already well controlled by current therapies are unlikely to see direct benefit from this basic mechanistic work in the short term.
Why it matters
Potential benefit: Could identify new molecular targets that improve nerve function and muscle strength for people with SMA beyond existing SMN-targeting therapies.
How similar studies have performed: Previous research has connected RNA-splicing defects to SMA and SMN-boosting drugs have improved outcomes, but targeting additional RNA pathways is a newer approach still being developed.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Pellizzoni, Livio — Columbia University Health Sciences
- Study coordinator: Pellizzoni, Livio
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.