A common gene mutation responsible for hearing loss has been targeted with a new therapy, reversing hearing loss found in mice.
At least 100 different genes have links to hearing loss, but one gene is responsible for up to sixteen percent of genetic hearing loss, STRC. The Boston Children's Hospital developed the new gene therapy technique replacing stereocilin, a mutated protein in the inner ear, to return hearing closer or back to normal levels.
The team now plans to test the technique with the human STRC gene, using cell cultures of human inner ear cells cultivated from patients with STRC hearing loss. To enable hearing, sensory hair cells within the inner ear must contact the tectorial membrane of the ear. The stereocilin protein provides structure to that hair cells to facilitate this contact.
"If stereocilin is mutated, you don't have that contact, so the hair cells are not stimulated properly. But importantly, the hair cells still remain functional, so they are receptive to the gene therapy. We think this will provide a broad window of opportunity for treatment-from babies to adults with hearing loss," says Jeffrey Holt, Ph.D., the study's senior investigator and scientist at the Boston Children's Hospital.
Approximately 2.3 million patients worldwide have STRC mutations, all of which could potentially benefit from this gene therapy.
You can read more from the study here.