Researchers will investigate a gene in the eye that is crucial for normal vision, but can cause retinal diseases when mutated that often lead to blindness.
Muna Naash, PhD, John S. Dunn Endowed Professor of Biomedical Engineering (left); and research partner Muayyad Al-Ubaidi, MD, John & Rebecca Moores Professor of Biomedical Engineering. Image credit: University of Houston
A team of professors and researchers at the University of Houston have recently been awarded over $3.6 million by the National Institutes of Health’s National Eye Institute to investigate a gene in the eye that is crucial for normal vision, but can cause retinal diseases when mutated that often lead to blindness. The gene, peripherin 2, has more than 300 variants when mutated as PRPH2, which can cause diseases such as retinitis pigmentosa and macula-predominant disorders including pattern dystrophy, cone-rod dystrophy, and several forms of macular degeneration, according to a news release.
When functioning properly, peripherin 2 is known to provide instructions for making a protein that shapes the outer segment of photoreceptor cells in the retina.
“We want to understand how defects with the PRPH2 gene lead to eye diseases,” said Muna Naash, PhD, John S. Dunn Endowed Professor of Biomedical Engineering, in the release. “Our main objective is to uncover the mechanisms underlying PRPH2-associated pathology, with a focus on its roles in rods and cones, the two types of photoreceptor cells in the retina.”
Naash will be working alongside Muayyad Al-Ubaidi, MD, John & Rebecca Moores Professor of Biomedical Engineering. “We will also examine how these cells are built and organized, and how proteins are transported to their outer segments,” said Naash in the release.
The release also noted that the underlying mechanisms of PRPH2 are not currently understood well. Additionally, with so many mutations of the gene linked to eye diseases, PRPH2 is a research topic of concern for developing gene therapy.
“Despite considerable scientific advancement, there are still no clinically viable therapeutic options for PRPH2 retinal diseases,” Al-Ubaidi said in the release. “Gaining a thorough grasp of the mechanisms associated with PRPH2 diseases is crucial for designing effective therapies.”
Al-Ubaidi and Naash will be conducting their research by developing experimental models and various therapeutic platforms that will allow for the evaluation of disease mechanisms and test therapeutic strategies for PRPH2 disorders.
“Our focus is to further explore the biochemical properties of PRPH2 and its key binding partner, retinal OS membrane protein 1,” said Naash in the release. “This will aid our understanding of the precise mechanisms governing PRPH2's involvement in rod and cone outer segment rim formation, an elusive goal that has long hindered the development of effective therapies.”
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