Genetic Medicine for Hearing Loss: OTOF as Exemplar

J Am Acad Audiol. 2021 Nov;32(10):646-653. doi: 10.1055/s-0041-1730410. Epub 2022 May 24.

Abstract

Millions of people worldwide have disabling hearing loss because one of their genes generates an incorrect version of some specific protein the ear requires for hearing. In many of these cases, delivering the correct version of the gene to a specific target cell within the inner ear has the potential to restore cochlear function to enable high-acuity physiologic hearing. Purpose: In this review, we outline our strategy for the development of genetic medicines with the potential to treat hearing loss. We will use the example of otoferlin gene (OTOF)-mediated hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the OTOF gene.

Publication types

  • Review

MeSH terms

  • Deafness*
  • Hearing
  • Hearing Loss* / genetics
  • Hearing Loss, Sensorineural* / genetics
  • Humans
  • Membrane Proteins / genetics
  • Mutation

Substances

  • Membrane Proteins
  • OTOF protein, human