Role of Lmod2 in heart muscle and dilated cardiomyopathy
Official title: Deciphering the role of Lmod2 in cardiac muscle and in dilated cardiomyopathy
Funded at Icahn School of Medicine at Mount Sinai · NIH-11395217 · Data updated 2026-11-12
This NIH grant explores how a heart-specific protein (Lmod2) helps heart cells contract properly and how its problems can cause dilated cardiomyopathy in infants and children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 1, 2015 |
| Project end | May 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $786,551 |
| NIH project number | 5R01HL123078-11 |
| Project ID | NIH-11395217 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with congenital or infantile dilated cardiomyopathy linked to LMOD2 mutations or abnormal LMOD2 protein.
✕Less likely to help
Individuals without LMOD2-related heart disease may not benefit from this research.
What this research studies
The project looks at how thin filaments in heart muscle are built and activated, and how Lmod2 mutations disrupt this process. Researchers have found that Lmod2 not only helps set filament length but also affects how heart muscle contracts, suggesting multiple ways it can influence disease. They plan to test how changes in Lmod2 alter contractile signals and identify strategies to restore function when LMOD2 is defective. This work could uncover targets for therapies to improve heart function in patients with LMOD2-related cardiomyopathy.
Why it matters
Potential benefit: If successful, findings could lead to new approaches to treat or prevent heart failure caused by LMOD2 mutations.
How similar studies have gone: Previous work shows LMOD2 mutations can cause severe DCM and that restoring LMOD2 expression may improve outcomes in models; this project extends that understanding.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Gregorio, Carol C — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gregorio, Carol C
Related research
Other NIH-funded projects on the same topics.
-
Discovery of rare genetic variants linked to dilated cardiomyopathy using big biobank data
A large-scale genetic study will look for rare gene variants that affect dilated cardiomyopathy to improve how we diagnose and manage the condition.
-
Understanding how muscle ribosome mutations cause severe neonatal dilated cardiomyopathy and ways to treat it
This grant focuses on a rare genetic heart condition in newborns caused by mutations in a muscle-specific ribosomal protein, with hopes to find new ways to diagnose and treat it.
-
Unlocking how rare genetic changes cause dilated cardiomyopathy
A large study will look at genetic data from many people to understand which rare variants affect dilated cardiomyopathy and how this changes risk and treatment.
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Targeting DNA Damage Pathways in LMNA-Related Heart Disease
A study to understand how damaged DNA and inflammatory signals contribute to dilated cardiomyopathy caused by LMNA mutations and explore therapies that can protect the heart.
-
Using miRNA to find new treatment paths for dilated cardiomyopathy
Researchers are studying heart-muscle disease (dilated cardiomyopathy) to discover miRNA-based clues that could lead to targeted therapies for patients.
-
Skeletal muscle actin mutations and heart disease: understanding how a specific mutation affects heart function
A physician-scientist at Johns Hopkins is studying how a skeletal muscle protein mutation (ACTA1 R256H) affects heart muscle function to help people with dilated cardiomyopathy.
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.