Understanding how mutations in a specific gene affect heart muscle function.
Mechanistic Basis of Cardiac Laminopathy
This study is looking at how changes in a specific gene can affect heart muscle cells and lead to a serious heart condition called inherited dilated cardiomyopathy, with the goal of finding new ways to help improve heart function for those who are affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10875597 on NIH RePORTER |
What this research studies
This research investigates the impact of mutations in the lamin A/C gene on heart muscle cells, particularly focusing on how these mutations lead to inherited dilated cardiomyopathy, a serious heart condition. The study aims to uncover the mechanisms by which these genetic defects disrupt cell stability, gene expression, and cell signaling in cardiac cells. By exploring the relationship between nuclear positioning and signaling pathways, the research seeks to identify potential therapeutic targets for improving heart function in affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with inherited dilated cardiomyopathy, particularly those with mutations in the lamin A/C gene.
Not a fit: Patients with cardiomyopathy not linked to lamin A/C mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients with inherited dilated cardiomyopathy, improving heart function and quality of life.
How similar studies have performed: Previous research has shown promising results in understanding the mechanisms of cardiac laminopathy, suggesting that this approach could yield significant insights.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Worman, Howard J — Columbia University Health Sciences
- Study coordinator: Worman, Howard J
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.