A new study has revealed promising results for a potential treatment for retinitis pigmentosa (RP), a group of inherited eye diseases that lead to progressive blindness. The research, published on January 14 in the peer-reviewed journal PLOS Biology, highlights two compounds identified through a cutting-edge virtual screening approach. These compounds may offer a breakthrough in preventing vision loss in individuals with this genetic disorder.
Retinitis pigmentosa is caused by mutations in the rhodopsin gene, which results in misfolded rhodopsin proteins in the retina. This misfolding leads to the degeneration of retinal cells and eventually blindness. The condition affects an estimated 100,000 people in the United States, but current treatments, such as retinoid compounds, come with significant drawbacks, including light sensitivity and toxicity.
The study, led by Beata Jastrzebska from Case Western Reserve University, employed virtual screening to identify drug-like molecules that could stabilize the structure of rhodopsin and promote proper protein folding. The researchers discovered two non-retinoid compounds that not only meet these criteria but also have the ability to cross both the blood-retina and blood-brain barriers—key factors for the effectiveness of the treatment.
In laboratory tests, the compounds improved rhodopsin’s surface expression in 36 out of 123 genetic subtypes of retinitis pigmentosa, including the most common variant. Moreover, the compounds demonstrated protective effects against retinal degeneration in mice with retinitis pigmentosa, showing an improvement in overall retinal health and function.
“Importantly, treatment with either compound significantly prolonged the survival of photoreceptor cells in these mice, offering hope for slowing the progression of retinal degeneration,” the authors noted. Despite these promising findings, the team emphasized that further studies are necessary before advancing to human clinical trials.
The study’s findings offer a novel approach to treating inherited mutations in the rhodopsin gene, which currently causes a progressive and untreatable form of blindness. By identifying small-molecule pharmacochaperones that target misfolded rhodopsin, the research paves the way for a potential new therapeutic approach to preserve vision in those affected by retinitis pigmentosa.
As the study progresses, researchers aim to refine the compounds and test them in clinical settings to assess their efficacy and safety for human use. For now, the research marks a significant step forward in the fight against this devastating genetic condition.
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