Breakthrough in the treatment of hearing loss by gene therapy

By developing a method for studying an important hearing-critical protein, American scientists have recently taken a new step in treating deaf people with gene therapy.

In a study published in the journal Proceedings of the National Academy of Sciences, scientists at Oregon State University (OSU) studied proteins called otoferlin located in the inner ear of the inner ear.

Mutations in this protein are associated with serious congenital hearing loss that makes patients almost unable to hear any sound.

Picture 1 of Breakthrough in the treatment of hearing loss by gene therapy
Scientists have recently taken a new step in treating deaf people with gene therapy.

The researchers suggest that this protein functions as a bridge and touch with calcium. The study found a mutant otoferlin mutation weakens the link between this protein and a calcium synapse in the ear, and this deficiency may be the source of hearing loss associated with otoferlin protein.

OSU researchers have used a new single-molecule test to investigate the different mechanisms of action between otoferlin and a neuronal calcium-sensing protein in the brain, called synaptotagmin , which detects otoferlin. As only one function is to encode sound in the sensor hair cells of the inner ear. Therefore, small mutations in this protein also cause hearing loss.

The study opens up the possibility of treating hearing loss associated with otoferlin with gene therapy. However, the gene of otoferlin protein is very large, so it is inconsistent with the traditional method of creating a recombinant protein using E.coli.

Scientists have tried to shorten this gene to a suitable size while still ensuring its ability, which is expected to help hearing-impaired patients to hear it again.