WVU Receives Funding From National Eye Institute For Research In Retinal Degeneration

Hereditary retinal degeneration can make even the most mundane tasks, like cooking, driving, and walking on the sidewalk, difficult or impossible, and it cannot be cured.

Peter Stoilov and Visvanathan Ramamurthy, researchers at West Virginia University School of Medicine, have spent the last few years working together to study proteins called Musashi, the loss of which causes rapid retinal degeneration. Their project recently received its fifth year of funding – $ 502,444 – from the National Eye Institute, a division of the National Institutes of Health.

The big problem with treating retinal disease is that it’s such a scattered target that you can’t hit it with just one therapy. Retinal disease is caused by hundreds of genetic mutations in dozens of different genetic loci, so you need to treat each mutation individually. We believe that once we have a good understanding of what Musashi proteins do and how to manipulate their function, we can develop a universal therapy for blinding diseases. “

Peter Stoilov, Associate Professor, Department of Biochemistry, West Virginia University School of Medicine

Musashi proteins are two very similar RNA binding proteins found in all vertebrates. Previous work by Stoilov and Ramamurthy revealed that Musashi proteins are essential for the development and survival of photoreceptors. Now they are exploring what exactly Musashi proteins do at a molecular level that is so important to photoreceptor health.

Researchers want to determine whether Musashi directly control protein translation in the retina and study the role proteins play in regulating gene deletion.

“I think the most difficult task in this grant is to put weight on all these different potential mechanisms,” Stoilov said. “How important is direct regulation versus indirect regulation? And these assumptions may not be mutually exclusive. “

Treatment options for people with degenerative retinal diseases are limited and expensive because they only work when certain mutations are present.

“A reduction in the production of proteins needed for vision is frequently associated with human blindness,” said Ramamurthy, professor in the Department of Ophthalmology and Visual Sciences and chair of the Department of Biochemistry. “Our studies on Musashi will identify potential pathways to stimulate protein production and slow vision loss.”

Stoilov and Ramamurthy believe that a better understanding of the processes leading to retinal degeneration and blindness will result in more universally effective and cheaper therapies for people with degenerative retinal diseases.

“I think the results of this project will give us a very good overall and fundamental understanding of what happens during retinal degeneration,” Stoilov said. “It is universal, and it can be widely applied to retinal degeneration regardless of the immediate cause.”