Understanding and reversing the effects of Titin gene changes on heart health
Establishing and reversing the functional consequences of Titin truncation mutations
This project explores how changes in the Titin gene lead to heart muscle weakness and aims to find ways to correct these problems.
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-11115560 on NIH RePORTER |
What this research studies
Many people experience heart muscle weakness, called cardiomyopathy, often due to changes in genes like Titin. We don't fully understand how these specific Titin gene changes cause the heart to weaken, especially why some changes are more harmful than others. This project seeks to uncover the exact ways these genetic changes affect heart cells and their ability to pump blood. Our goal is to discover new ways to reverse these harmful effects, which could lead to better treatments for patients.
Who could benefit from this research
Good fit: Patients with dilated cardiomyopathy, particularly those with known Titin gene truncation mutations, are the focus of this research.
Not a fit: Patients whose cardiomyopathy is not linked to Titin gene mutations or other genetic causes may not directly benefit from this specific line of inquiry.
Why it matters
Potential benefit: If successful, this work could lead to improved diagnoses, more accurate predictions of disease progression, and new treatment options for patients with dilated cardiomyopathy caused by Titin gene mutations.
How similar studies have performed: While the link between TTN variants and dilated cardiomyopathy is established, the mechanistic basis for the 'length dependence' of pathogenicity and its reversal remains incompletely understood, suggesting this approach has novel aspects.
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.