How changes in the heart muscle gene TNNT2 affect heart function
Pathogenicity and pathophysiology assessments of sarcomere gene variants identified in the clinic
This project will find out whether specific changes in the TNNT2 heart gene make the heart too stiff or too weak so people with unclear genetic test results can get clearer risk and treatment information.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project ID | NIH-11248022 on NIH RePORTER |
What this research studies
If you have a TNNT2 genetic change of uncertain significance, researchers will recreate those exact changes in lab-grown heart muscle and in cellular models to see how they change heart muscle behavior. They will measure calcium handling and the force generated by the muscle fibers to see whether each change makes the heart more prone to stiffness (hypertrophy) or weakness (dilation). The team will compare results to known disease-causing TNNT2 changes and use those patterns to reclassify uncertain genetic findings. That reclassification could guide more precise monitoring and treatment choices for affected families.
Who could benefit from this research
Good fit: People who carry TNNT2 variants of uncertain significance or who have a family history of hypertrophic or dilated cardiomyopathy are the ideal candidates to contribute samples or data.
Not a fit: People without TNNT2 or other sarcomere gene variants, or whose heart disease has a clearly non-genetic cause, are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could turn many uncertain TNNT2 genetic results into clear information that improves risk prediction and treatment decisions.
How similar studies have performed: Previous smaller studies have shown that some TNNT2 variants alter calcium sensitivity and link to hypertrophic or dilated cardiomyopathy, but those were limited in number and this project aims to test many more variants systematically.
Where this research is happening
Farmington, United States
- University of Connecticut Sch of Med/dnt — Farmington, United States (Active)
Researchers
- Principal investigator: Hinson, John Travis — University of Connecticut Sch of Med/dnt
- Study coordinator: Hinson, John Travis
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.