Understanding how myosin binding protein-C affects skeletal muscle function
Structure and function of myosin binding protein-C in skeletal muscles
['FUNDING_R01'] · UNIVERSITY OF ARIZONA · NIH-11045522
This study is looking at how a protein called MyBP-C affects muscle movement and how changes in this protein can cause muscle diseases, helping us understand conditions like tightness in the limbs and muscle shaking.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF ARIZONA (nih funded) |
| Locations | 1 site (TUCSON, UNITED STATES) |
| Trial ID | NIH-11045522 on ClinicalTrials.gov |
What this research studies
This research investigates the role of myosin binding protein-C (MyBP-C) in regulating skeletal muscle contraction and how genetic mutations in MyBP-C can lead to congenital muscle diseases. The study employs a novel technique to selectively modify different MyBP-C variants in their natural positions within muscle cells, allowing researchers to observe their distinct functional effects. By focusing on both slow and fast MyBP-C paralogs, the research aims to clarify their contributions to muscle function and disease. This could provide insights into conditions like distal limb contractures and myogenic tremors.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital skeletal muscle diseases, particularly those with mutations in the MYBPC1 or MYBPC2 genes.
Not a fit: Patients without congenital skeletal muscle diseases or those with unrelated muscle conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for congenital skeletal muscle diseases.
How similar studies have performed: While research on cardiac MyBP-C has shown significant findings, the specific investigation of skeletal MyBP-C variants is relatively novel and less explored.
Where this research is happening
TUCSON, UNITED STATES
- UNIVERSITY OF ARIZONA — TUCSON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HARRIS, SAMANTHA P — UNIVERSITY OF ARIZONA
- Study coordinator: HARRIS, SAMANTHA P
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.