Understanding how actin mutations affect smooth muscle function in visceral myopathy
Biochemical and cellular mechanisms linking actin mutations to visceral myopathy
This study is looking at how changes in a specific protein can cause problems with bowel, bladder, and uterine muscle function, and it aims to find out how these changes affect symptoms so that doctors can create better, personalized treatments for people with visceral myopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10910114 on NIH RePORTER |
What this research studies
This research investigates the underlying mechanisms by which mutations in the actin protein lead to visceral myopathy, a condition that severely impacts bowel, bladder, and uterine smooth muscle function. The study aims to identify specific mutations in the ACTG2 gene and how they contribute to symptoms like chronic intestinal pseudo-obstruction and bladder weakness. By employing biochemical, structural, cellular, and stem cell methodologies, the researchers hope to develop targeted therapies that address the unique disease mechanisms associated with different mutations. This approach is designed to improve patient outcomes by tailoring treatments to the specific genetic variants present in individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with visceral myopathy, particularly those with mutations in the ACTG2 gene.
Not a fit: Patients without visceral myopathy or those whose condition is not linked to ACTG2 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new, more effective treatments for patients suffering from visceral myopathy.
How similar studies have performed: While the study of actin mutations is established, the specific focus on ACTG2 and its role in visceral myopathy is relatively novel and has not been extensively tested in prior research.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Heuckeroth, Robert O — Children's Hosp of Philadelphia
- Study coordinator: Heuckeroth, Robert O
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.