Researchers are getting closer to developing a gene therapy that could help the deaf who were born deaf restore their hearing | Oregon State University
CORVALLIS, Ore. – Researchers at Oregon State University have found a key new piece of the puzzle in the quest to use gene therapy to enable people born deaf to hear.
The work centers around a large gene responsible for an inner-ear protein, otoferlin. Mutations in otoferlin are linked to severe congenital hearing loss, a common type of deafness in which patients can hear almost nothing.
“For a long time otoferlin seemed to be a one-trick pony of a protein,” said Colin Johnson, associate professor of biochemistry and biophysics in the OSU College of Science. “A lot of genes will find various things to do, but the otoferlin gene had appeared only to have one purpose and that was to encode sound in the sensory hair cells in the inner ear. Small mutations in otoferlin render people profoundly deaf.”
In its regular form, the otoferlin gene is too big to package into a delivery vehicle for molecular therapy, so Johnson’s team is looking at using a truncated version instead.
