Gene changes in protein quality control that influence hypertrophic cardiomyopathy
Risk Alleles in Protein Quality Control Genes as Modifiers of Hypertrophic Cardiomyopathy
This project looks at whether common genetic variants in protein-quality-control genes change disease severity in people with hypertrophic cardiomyopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11245770 on NIH RePORTER |
What this research studies
This project looks at common genetic changes near protein-quality-control genes and how they change symptoms and heart function in people with hypertrophic cardiomyopathy. The team will combine genetic studies in large patient datasets with lab experiments using human cell and tissue models to test how variants in BAG3, HSPB7, and DNAJC18 affect protein handling in heart muscle. By linking risk alleles to specific effects on the sarcomere and contractility, they aim to explain why people with the same primary HCM genes can have very different outcomes. Results could point to markers for risk and new targets to protect the heart and prevent dangerous arrhythmias.
Who could benefit from this research
Good fit: People diagnosed with hypertrophic cardiomyopathy, especially those with known sarcomere gene mutations or a family history of HCM, would be the ideal candidates to provide genetic data or samples.
Not a fit: People without HCM or those seeking immediate clinical treatment options are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could improve prediction of who will develop worse HCM and identify molecular targets for therapies to protect heart muscle and reduce arrhythmias.
How similar studies have performed: Previous GWAS and preliminary laboratory studies have linked these chaperone-related genes to HCM, but directly connecting specific risk alleles to molecular mechanisms is a more recent effort.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Day, Sharlene M — University of Pennsylvania
- Study coordinator: Day, Sharlene M
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.