Understanding Muscle Weakness in Distal Arthrogryposes
Slow myosin binding protein-C in skeletal muscle physiology
This research aims to understand how a specific protein, slow myosin binding protein-C, affects muscle function in people with distal arthrogryposes, a group of conditions causing joint contractures and muscle weakness.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Arizona NIH-funded |
| Lab location | 1 site (Tucson, United States) |
| Project ID | NIH-11248215 on NIH RePORTER |
What this research studies
Distal arthrogryposes (DA) are conditions where babies are born with stiff joints and weak muscles, and current treatments mostly focus on physical therapy because we don't fully understand what causes the muscle weakness. This project focuses on a protein called slow skeletal myosin binding protein-C (sMyBP-C), which is known to be involved in muscle contraction. We know that changes in the gene for sMyBP-C can lead to severe forms of DA, but we don't yet know exactly how this protein works in living muscle or how its changes lead to the muscle problems seen in DA. By studying sMyBP-C, this work hopes to uncover the basic ways muscles function and how they go wrong in DA.
Who could benefit from this research
Good fit: This foundational research is relevant to patients diagnosed with distal arthrogryposes, particularly those with known mutations in the MYBPC1 gene.
Not a fit: Patients without distal arthrogryposes or related muscle conditions are unlikely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this research could reveal the underlying causes of muscle weakness in distal arthrogryposes, potentially leading to new and more effective treatments beyond physical therapy.
How similar studies have performed: While specific genetic mutations are increasingly linked to DA, the molecular mechanisms of muscle weakness are poorly understood, making this a novel and foundational area of inquiry.
Where this research is happening
Tucson, United States
- University of Arizona — Tucson, United States (Active)
Researchers
- Principal investigator: Sadayappan, Sakthivel — University of Arizona
- Study coordinator: Sadayappan, Sakthivel
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.