How the heart muscle ribosomal protein RPL3L works
Mechanisms and functions of RPL3L ribosomes
Researchers will look at how differences in the heart-specific ribosomal protein RPL3L affect heart muscle and may cause severe dilated cardiomyopathy in people with RPL3L mutations.
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-11261090 on NIH RePORTER |
What this research studies
This project compares the heart-specific ribosomal protein RPL3L with the common ribosomal protein RPL3 to see how they change protein production in heart and skeletal muscle. Scientists will use genetic findings from families with RPL3L mutations together with biochemical assays, cellular models, and animal models to explore how RPL3L-containing ribosomes behave. The team will examine effects on heart muscle cells, ribosome structure, and protein synthesis to connect molecular changes to cardiac function. Results may rely on patient-derived samples or genetic data alongside laboratory experiments.
Who could benefit from this research
Good fit: People with known RPL3L genetic variants or infants and adults with unexplained dilated cardiomyopathy who are willing to provide clinical information or biospecimens would be the most directly relevant candidates.
Not a fit: Patients whose heart disease is caused by unrelated conditions (for example ischemic heart disease, hypertension, or non-genetic causes) are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could explain how RPL3L mutations cause early severe cardiomyopathy and point to new diagnostic markers or targets for future therapies.
How similar studies have performed: Genetic reports have linked RPL3L variants to neonatal dilated cardiomyopathy, but functional and mechanistic studies of RPL3L ribosomes remain limited, so this is a relatively novel line of work.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Wu, Xuebing — Columbia University Health Sciences
- Study coordinator: Wu, Xuebing
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.