Understanding heart muscle problems caused by a specific genetic mutation.
Mechanisms of cardiomyocyte dysfunction due to the E258K-MYBPC3 mutation modeled in patient-derived cardiomyocytes
This study is looking at how a specific gene change affects heart muscle function in people with hypertrophic cardiomyopathy (HCM) by using stem cells from patients, which could help find new treatments for the condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-10897895 on NIH RePORTER |
What this research studies
This research investigates how a specific mutation in the cardiac myosin binding protein-C gene leads to heart muscle dysfunction in patients with hypertrophic cardiomyopathy (HCM). By using patient-derived stem cells, the study aims to explore the underlying mechanisms of this mutation and its effects on heart cells. The researchers will utilize advanced techniques, including CRISPR/Cas9, to create isogenic cell lines for comparison, allowing for a deeper understanding of the disease at a cellular level. This approach could pave the way for developing targeted therapies for HCM.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those with the E258K mutation in the MYBPC3 gene.
Not a fit: Patients without the E258K mutation or those with other forms of heart disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that specifically target the underlying causes of hypertrophic cardiomyopathy.
How similar studies have performed: Previous research has shown promise in using patient-derived stem cells to study genetic heart diseases, indicating that this approach could yield valuable insights.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Steczina, Sonette — University of Washington
- Study coordinator: Steczina, Sonette
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.