Scientists at Oregon State University have made an important discovery in relation to gene therapy for Deaf patients, developing a better way to study a large protein essential for hearing, otoferlin.
Otoferlin binds to calcium synapses in the inner ear and its mutations are believed to be responsible for congenital hearing loss. “It’s a one-trick pony of a protein,” said corresponding Colin Johnson, associate professor of biochemistry and biophysics at OSU. “A lot of genes will find various things to do, but otoferlin seems only to have one purpose and that is to encode sound in the sensory hair cells in the inner ear. And small mutations in otoferlin render people profoundly deaf.”
Scientists study otoferlin by observing zebra fish, a species that has the same type of sensory cells as humans. These sensory hair cells are found on the surface of the zebra fish, making them easier to study.
Even with access to sensory cells, the study of otoferlin proves to be a challenge due to protein’s size. The scientists from OSU have come up with a way to shorten the protein, while preserving its function in encoding sound, suggesting it may be possible to use it for gene therapy.