In the inner ear, within the Organ of Corti, sound vibrations result in the movement of “stereocilia,” hairlike structures on the surface of inner hair cells. This movment stimlulates these cells to release neutrotransmitters, triggering the associated neurons to send signals to the brain which are interpreted as sound. One of the proteins required for release of these neurotransmitters is Otoferlin, and when this protein is mutated, the result may be deafness. Attempts to correct these mutations by means of genetic engineering are the work of several biotech companies.
Otoferlin, 21” x 29” (2021)
This work shows OTOFERLIN (rat, C2A domain, PDB 3L9B). The border of fused glass alternates three blue cells with stereocilia (symbolizing 3 rows of outer hair cells), and one green cell with stereocilia and posterior vesicles (symbolizing 1 row of inner hair cells).
Mutations in Otoferlin can lead to deafness, in experimental animals, and also in children. In preclinical studies, Decibel Therapeutics, Boston, a pioneer in this work, observed in preclinical studies that delivery of the proper otoferlin gene (DB-OTO) to the inner ear resulted in production of otoferlin protein and durable auditory brainstem responses to sound in a congenitally deaf, rodent otoferlin disease model.