Understanding muscle weakness in Nemaline Myopathy using a fruit fly model
The contributions of excitation and contraction to muscle deterioration in a Drosophila model of CFL2 nemaline myopathy
This work explores how changes in a protein called cofilin-2 lead to muscle weakness in Nemaline Myopathy, a condition causing muscle problems from birth.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11136304 on NIH RePORTER |
What this research studies
Nemaline myopathy is a muscle disease where patients experience muscle weakness and have unusual protein clumps in their muscle tissue. We know that mutations in genes important for muscle structure cause this condition, but we don't fully understand how these changes lead to the disease. This project uses a fruit fly model to look closely at how a specific protein, cofilin-2, affects muscle function and how signals from nerves reach muscles. By studying these details, we hope to uncover the basic problems that cause muscle deterioration in Nemaline Myopathy.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but aims to help those affected by Nemaline Myopathy in the future.
Not a fit: Patients without Nemaline Myopathy or related muscle conditions would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could provide a clearer understanding of the molecular causes of Nemaline Myopathy, potentially leading to new ideas for treatments.
How similar studies have performed: While the specific mechanisms are not fully understood, other basic science studies using animal models have successfully shed light on human disease processes.
Where this research is happening
New York, United States
- Weill Medical Coll of Cornell Univ — New York, United States (Active)
Researchers
- Principal investigator: Christophers, Briana — Weill Medical Coll of Cornell Univ
- Study coordinator: Christophers, Briana
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.