MTSS1 and heart muscle health
MTSS1 in myocardial disease
This project looks at how changes in the MTSS1 gene affect heart size and the risk of heart muscle disease, with effects seen mainly in adult women.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11230037 on NIH RePORTER |
What this research studies
Researchers study how genetic changes that lower MTSS1 in heart muscle change heart size and function. They combine lab experiments in mice with analysis of human heart MRI data from the UK Biobank to compare effects in men and women. Early results show MTSS1 reduction helped heart function in female mice and that genetic variants linked to lower MTSS1 associate with better heart measurements in women but not men. The team will fine-map the gene region and study mechanisms to understand how MTSS1 might be used to protect people from dilated cardiomyopathy.
Who could benefit from this research
Good fit: Adults—particularly women—with or at risk for dilated cardiomyopathy or who carry relevant genetic variants would be most relevant.
Not a fit: People without heart muscle problems or without the relevant genetic risk factors may not see direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could point to new ways to prevent or treat heart muscle disease that are tailored by sex.
How similar studies have performed: Prior animal experiments and human genetic analyses from this team suggest MTSS1 reduction can be protective in females, so these findings are promising but still need translation.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Cappola, Thomas P. — University of Pennsylvania
- Study coordinator: Cappola, Thomas 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.