Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

Cell. 2006 Oct 20;127(2):277-89. doi: 10.1016/j.cell.2006.08.040.

Abstract

The auditory inner hair cell (IHC) ribbon synapse operates with an exceptional temporal precision and maintains a high level of neurotransmitter release. However, the molecular mechanisms underlying IHC synaptic exocytosis are largely unknown. We studied otoferlin, a predicted C2-domain transmembrane protein, which is defective in a recessive form of human deafness. We show that otoferlin expression in the hair cells correlates with afferent synaptogenesis and find that otoferlin localizes to ribbon-associated synaptic vesicles. Otoferlin binds Ca(2+) and displays Ca(2+)-dependent interactions with the SNARE proteins syntaxin1 and SNAP25. Otoferlin deficient mice (Otof(-/-)) are profoundly deaf. Exocytosis in Otof(-/-) IHCs is almost completely abolished, despite normal ribbon synapse morphogenesis and Ca(2+) current. Thus, otoferlin is essential for a late step of synaptic vesicle exocytosis and may act as the major Ca(2+) sensor triggering membrane fusion at the IHC ribbon synapse.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Auditory Pathways / metabolism
  • Calcium / metabolism
  • Cochlea / growth & development
  • Cochlea / metabolism*
  • Deafness / genetics
  • Deafness / metabolism*
  • Deafness / physiopathology
  • Evoked Potentials, Auditory, Brain Stem
  • Exocytosis*
  • Hair Cells, Auditory, Inner / metabolism*
  • Hair Cells, Auditory, Inner / ultrastructure
  • Humans
  • Membrane Fusion
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Synapses / metabolism*
  • Synaptic Transmission
  • Synaptic Vesicles / metabolism
  • Synaptosomal-Associated Protein 25 / metabolism
  • Syntaxin 1 / metabolism
  • Time Factors

Substances

  • Membrane Proteins
  • OTOF protein, human
  • Synaptosomal-Associated Protein 25
  • Syntaxin 1
  • Calcium