![]() ![]() ![]() However, because protocadherin-15 is so big, its DNA is too large for the typical viral capsule used to transport genetic material into a cell. The therapy would introduce DNA that codes for protocadherin-15 into a cell, enabling the cell to begin making the protein. Through this work, Corey became interested in designing a gene therapy for Usher 1F. In the absence of this protein, electrical current can’t enter hair cells, the conversion from vibration to electricity doesn’t occur, and the brain cannot detect sound.Ī bundle of sensory cilia on a hair cell in the inner ear. Specifically, they’ve wanted to know how the protein helps sensory receptors called hair cells in the ear convert vibrations from the environment into electrical signals, which the brain interprets as sound.Ĭorey’s team previously figured out how protocadherin-15 partners with another protein, cadherin 23, in hair cells to create filaments that physically pull open ion channels as the bundles vibrate, allowing electrical current to enter the cells. Researchers in the Corey lab have long been interested in protocadherin-15’s role in the inner ear. These problems arise due to a mutation that interferes with production of a protein called protocadherin-15, which has slightly different forms in the ear and eye and is needed for cells in the auditory and visual systems to function properly. Applying expertise to a new problemĬhildren with Usher syndrome are typically born completely deaf or with severely impaired hearing, lack balance, and lose vision over time as the retina deteriorates. “It’s completely devastating to be born deaf and then lose your vision, so we hope that this mini gene can eventually be turned into a treatment for this disease,” said co-senior author David Corey, the Bertarelli Professor of Translational Medical Science in the Blavatnik Institute at HMS. The researchers plan to continue testing the mini gene in other animal models and, eventually, hope to test it in humans. “Patients with Usher 1F are born with profound hearing loss and progressive vision loss, and so far we have been able to offer very few solutions to these families,” said co-senior author Artur Indzhykulian, HMS assistant professor of otolaryngology–head and neck surgery at Mass Eye and Ear. In mice, the mini gene increased production of the missing protein, enabling the hair cells to sense sound and restoring hearing.īecause vision loss in Usher 1F involves a slightly different form of the same protein, the researchers say the same approach may be useful for preventing blindness. The mutation renders hair cells inside the inner ear incapable of producing a key protein involved in sound transmission. The scientists designed a “mini gene” - a shortened version of a gene - to replace the gene that is mutated in Usher 1F. The research, conducted in mice, is described April 26 in Nature Communications. Now, a team led by researchers at Harvard Medical School, Massachusetts Eye and Ear, and The Ohio State University has made an important first step toward developing a gene therapy for the disease. Usher syndrome type 1F is a rare but severe genetic disease that causes deafness, lack of balance, and progressive blindness. The work sets the stage for therapies that prevent Usher 1F blindness, for which there are currently no treatments.In mice, the mini gene increased production of an essential protein whose absence contributes to deafness and progressive vision loss in Usher 1F.Researchers have designed a “mini gene” that could eventually be developed into a gene therapy for Usher syndrome type 1F.Harvard COVID-19 Information: Keep Harvard Healthy.Research Departments, Centers, Initiatives and more.
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