Understanding how amino acid transport affects vision loss in a specific eye disease
Retinal amino acid transport in health and disease
This study is looking at how a protein called SLC7A14 affects the movement of amino acids in cells and how problems with this protein might be linked to retinitis pigmentosa, a genetic eye condition that can cause vision loss, using mice to learn more about which cells are impacted and how we might find new ways to help.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | West Virginia University NIH-funded |
| Lab location | 1 site (Morgantown, United States) |
| Project ID | NIH-11047724 on NIH RePORTER |
What this research studies
This research investigates the role of a specific protein, SLC7A14, in the transport of amino acids within lysosomes and its connection to retinitis pigmentosa, a genetic eye disease that can lead to blindness. By using mouse models, the researchers aim to identify the specific cell types affected by mutations in this protein and how these mutations disrupt amino acid transport, potentially leading to vision loss. The study seeks to uncover fundamental mechanisms of cellular metabolism and may pave the way for new therapeutic strategies targeting these pathways.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with retinitis pigmentosa, particularly those with mutations in the SLC7A14 gene.
Not a fit: Patients with retinitis pigmentosa caused by mutations unrelated to SLC7A14 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for retinitis pigmentosa, potentially preserving or restoring vision for affected patients.
How similar studies have performed: While the specific approach of targeting SLC7A14 in retinitis pigmentosa is novel, similar studies have shown promise in understanding lysosomal functions in other diseases.
Where this research is happening
Morgantown, United States
- West Virginia University — Morgantown, United States (Active)
Researchers
- Principal investigator: Webb, Bradley a — West Virginia University
- Study coordinator: Webb, Bradley a
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.