Understanding how a specific gene affects limb development in babies with joint issues
Investigating how Mylpf-regulated sarcomere formation influences limb skeletal development
This study is looking at how a specific gene called Mylpf affects muscle development and movement in babies, especially those born with joint problems like arthrogryposis, using zebrafish to help understand how to improve treatment options for these little ones.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maine Orono NIH-funded |
| Lab location | 1 site (Orono, United States) |
| Project ID | NIH-10437165 on NIH RePORTER |
What this research studies
This research investigates the role of the Mylpf gene in the formation of sarcomeres, which are essential for muscle function and limb development. It focuses on congenital conditions like arthrogryposis, where babies are born with joint contractures that can lead to significant mobility challenges. By studying zebrafish models, the research aims to uncover how mutations in the Mylpf gene impact muscle integrity and movement during fetal development. The findings could provide insights into preventing or treating limb deformities in affected infants.
Who could benefit from this research
Good fit: Ideal candidates for this research are infants diagnosed with arthrogryposis or related congenital limb deformities.
Not a fit: Patients with congenital limb deformities not related to Mylpf gene mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for preventing or treating congenital limb deformities in infants.
How similar studies have performed: Previous research has shown promising results in understanding genetic influences on congenital conditions, suggesting potential for success in this area.
Where this research is happening
Orono, United States
- University of Maine Orono — Orono, United States (Active)
Researchers
- Principal investigator: Talbot, Jared Coffin — University of Maine Orono
- Study coordinator: Talbot, Jared Coffin
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.