How a change in the SSBP1 gene affects vision
Molecular Mechanisms Underlying the Effects of SSBP1 Mutation on Vision
Researchers are using a mouse that carries the common SSBP1 R107Q mutation to learn how it damages retinal cells and leads to vision loss in people with OPA13.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11302632 on NIH RePORTER |
What this research studies
If you have OPA13, this project uses a mouse bearing the same SSBP1 R107Q mutation seen in patients to show how retinal cells break down. Scientists will examine retinal ganglion cells and photoreceptors to trace effects on mitochondrial DNA replication, energy production, and oxidative stress. They will compare one versus two mutated gene copies to determine whether the variant blocks normal protein function or simply reduces protein levels. The results aim to point toward ways to protect mitochondria and preserve vision.
Who could benefit from this research
Good fit: People with clinical signs of Optic Atrophy-13 (OPA13) or a confirmed pathogenic SSBP1 R107Q variant would be the intended population for future therapies and clinical follow-up.
Not a fit: Patients whose vision loss is due to unrelated causes or who have advanced, irreversible retinal damage are unlikely to benefit directly from this preclinical work.
Why it matters
Potential benefit: Could identify molecular targets to protect retinal cells or restore mitochondrial function, potentially leading to treatments that slow or prevent vision loss in OPA13 and related mitochondrial eye diseases.
How similar studies have performed: Previous cell and animal studies have linked mitochondrial dysfunction to optic atrophy but effective therapies remain limited, so this novel mouse model is a new step rather than an established treatment approach.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Zhang, Xin — Columbia University Health Sciences
- Study coordinator: Zhang, Xin
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.