A DNA switch that controls the liver LDL receptor
Molecular Regulation of LDL Receptor Expression
Looks at whether a small DNA switch inside the LDLR gene changes liver LDL receptor levels and could affect heart disease risk for people with high cholesterol.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11235130 on NIH RePORTER |
What this research studies
Researchers are mapping a small regulatory region (an enhancer) inside the LDLR gene that appears to change how much LDL receptor the liver makes. They used a high-throughput CRISPR screen and will follow up with precise gene editing, biochemical binding assays, and tests in cells and model systems to find the exact DNA sites and proteins that control the enhancer. The team will connect common genetic differences seen in people to changes in enhancer activity to explain variation in LDL cholesterol and risk of atherosclerotic cardiovascular disease. Understanding these mechanisms could point to new drug targets or genetic markers.
Who could benefit from this research
Good fit: People with high LDL cholesterol, strong family histories of premature atherosclerotic cardiovascular disease, or known genetic variants near the LDLR gene would be the most relevant candidates for related future trials or sample donation.
Not a fit: Patients who need immediate clinical treatment or whose cardiovascular risk is driven mainly by non-LDL factors are unlikely to receive direct benefit from this early-stage laboratory research.
Why it matters
Potential benefit: If successful, it could reveal ways to boost LDL receptor levels and lower the risk of atherosclerotic heart disease.
How similar studies have performed: Previous work has established SREBP's role in LDLR regulation and an initial CRISPR screen already highlighted this intronic enhancer, so the approach builds on promising preliminary data though therapeutic translation is untested.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Emmer, Brian T — University of Michigan at Ann Arbor
- Study coordinator: Emmer, Brian T
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.