How the muscle protein NET39 affects muscle health and disease
The role of nuclear envelope protein NET39 in skeletal muscle function and diseases
Researchers are looking at whether the muscle protein NET39 keeps muscle cell nuclei healthy and how problems with NET39 may lead to muscle diseases like Emery-Dreifuss muscular dystrophy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-11260168 on NIH RePORTER |
What this research studies
This project looks at NET39 from the patient's point of view by studying muscle tissue and cells to see how NET39 supports the structure and function of muscle cell nuclei. The team examines human muscle biopsy samples alongside genetic mouse models that lack NET39 to observe the resulting changes in nuclear shape and muscle function. Laboratory experiments will map NET39's interactions with other nuclear envelope proteins and how those interactions control genes important for muscle. The aim is to explain why mutations in widely expressed nuclear envelope proteins cause muscle-specific disease.
Who could benefit from this research
Good fit: People with Emery-Dreifuss muscular dystrophy, congenital myopathies, or other striated muscle disorders linked to nuclear envelope defects would be most relevant to this work.
Not a fit: Patients whose muscle problems are caused by unrelated conditions (for example, metabolic, inflammatory, or purely nerve-related disorders) may not see direct benefit from this research.
Why it matters
Potential benefit: If successful, this research could explain why certain genetic changes harm muscle tissue and point to new targets to protect or restore muscle function in people with nuclear envelope-related myopathies.
How similar studies have performed: Prior work in cells and mouse models has already shown NET39 loss leads to nuclear envelope defects and muscle disease, so this project builds on promising preclinical evidence.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Olson, Eric N — Ut Southwestern Medical Center
- Study coordinator: Olson, Eric N
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.