How the eye keeps cholesterol balanced
Cholesterol homeostasis in the vertebrate retina
Researchers are looking at whether retinal cells need cholesterol made inside the eye or rely on cholesterol coming from the blood and nearby support cells, with relevance for people who have inherited cholesterol-making disorders like Smith-Lemli-Opitz Syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project ID | NIH-11325322 on NIH RePORTER |
What this research studies
This research uses new mouse models that let scientists switch off the DHCR7 gene in specific eye cells to mimic defects seen in Smith-Lemli-Opitz Syndrome. The team will track where cholesterol in the retina comes from, examine photoreceptor and retinal pigment epithelium (RPE) health, and measure retinal function and signs of cellular stress. They will compare different targeted gene deletions and prior chemical models to understand how cholesterol imbalance causes degeneration. Results will suggest whether supplying cholesterol from the blood or supporting glial/RPE pathways could protect retinal cells.
Who could benefit from this research
Good fit: People with Smith-Lemli-Opitz Syndrome or other inherited defects in cholesterol synthesis, and their families, would be most directly relevant to this research.
Not a fit: Patients whose retinal disease is caused by mechanisms unrelated to cholesterol metabolism are unlikely to receive direct benefit from these findings.
Why it matters
Potential benefit: If successful, this work could point to ways to protect photoreceptors and slow or prevent vision loss in patients with SLOS and related cholesterol synthesis disorders by guiding treatments that restore cholesterol balance in the eye.
How similar studies have performed: Previous rat models using DHCR7 inhibitors showed retinal degeneration, but the new viable, cell-specific genetic mouse models are novel and enable more precise testing of cell-type roles.
Where this research is happening
Amherst, United States
- State University of New York at Buffalo — Amherst, United States (Active)
Researchers
- Principal investigator: Fliesler, Steven J. — State University of New York at Buffalo
- Study coordinator: Fliesler, Steven J.
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.