ASNA1 gene changes and infant dilated cardiomyopathy
Molecular basis of ASNA1 cardiomyopathy
This work looks at how specific ASNA1 gene changes damage heart muscle cells and cause severe dilated cardiomyopathy in infants.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11291819 on NIH RePORTER |
What this research studies
If my child or I had ASNA1-related heart disease, this research would study why the ASNA1 gene problems break the machinery that places certain proteins into heart cell membranes. The team is using specially engineered mice with heart-specific ASNA1 changes and human stem cell–derived heart cells made from patient cells to see how the mutations affect heart muscle. They are comparing a missense change (V163A) and a null change (C289W,Q305*) alone and together to reproduce the infant disease. The work focuses on the cellular steps that fail so researchers can find points to target for future treatments.
Who could benefit from this research
Good fit: Ideal candidates are infants or family members with known ASNA1 mutations or families affected by early-onset dilated cardiomyopathy who can provide clinical information or biological samples.
Not a fit: People with dilated cardiomyopathy from unrelated genetic causes or common adult-onset heart disease are unlikely to benefit directly from this specific ASNA1-focused work.
Why it matters
Potential benefit: Understanding the molecular cause could point to ways to diagnose, counsel families, and eventually develop targeted treatments for ASNA1-related cardiomyopathy.
How similar studies have performed: The methods—mouse genetic models and human iPSC-derived heart cells—have successfully clarified mechanisms in other rare genetic cardiomyopathies, but applying them to ASNA1 is relatively new.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Chen, Ju — University of California, San Diego
- Study coordinator: Chen, Ju
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.