Hearing loss has been linked to mutations in at least 100 different genes, but up to 16 percent of genetic hearing loss can be traced to just one gene, STRC, the second most common genetic cause. A first-of-its-kind gene therapy technique developed at Boston Children's Hospital successfully replaced the mutated protein, stereocilin, in the inner ear and reversed severe hearing loss in mice — sometimes to normal levels of hearing. Findings were published December 15 in the journal Science Advances.
The technique could also be used in other situations where the therapeutic gene is very large, says Jeffrey Holt, PhD, a scientist in the departments of Otolaryngology and Neurology at Boston Children's and the study's senior investigator.
The team will now test whether the technique works with the human stereocilin gene and test it in a human inner ear cells in a dish, derived from patients with STRC hearing loss. If gene therapy restores auditory function at the tissue level, Holt hopes to apply to the FDA for permission to test it in humans.
