Understanding how mutations in the Titin gene affect heart function
Establishing and reversing the functional consequences of Titin truncation mutations
This study is looking at how certain changes in the Titin gene affect heart function and contribute to dilated cardiomyopathy, with the goal of finding better ways to diagnose and treat people with this heart condition.
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-10863918 on NIH RePORTER |
What this research studies
This research investigates the impact of truncation mutations in the Titin gene, which is crucial for heart muscle function. By studying these mutations, the research aims to clarify how they contribute to dilated cardiomyopathy, a condition that affects heart size and function. The approach includes analyzing the genetic and molecular mechanisms behind these mutations to improve diagnosis and treatment options for affected patients. Patients may benefit from insights that could lead to better prognostic tools and targeted therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with dilated cardiomyopathy, particularly those with known mutations in the Titin gene.
Not a fit: Patients without genetic mutations related to the Titin gene or those with other forms of cardiomyopathy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with dilated cardiomyopathy.
How similar studies have performed: Previous research has shown promising results in understanding genetic mutations in cardiomyopathies, suggesting that this approach could yield valuable insights.
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.