Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells

Nat Neurosci. 2010 Jul;13(7):869-76. doi: 10.1038/nn.2578. Epub 2010 Jun 20.

Abstract

Inner hair cell ribbon synapses indefatigably transmit acoustic information. The proteins mediating their fast vesicle replenishment (hundreds of vesicles per s) are unknown. We found that an aspartate to glycine substitution in the C(2)F domain of the synaptic vesicle protein otoferlin impaired hearing by reducing vesicle replenishment in the pachanga mouse model of human deafness DFNB9. In vitro estimates of vesicle docking, the readily releasable vesicle pool (RRP), Ca(2+) signaling and vesicle fusion were normal. Moreover, we observed postsynaptic excitatory currents of variable size and spike generation. However, mutant active zones replenished vesicles at lower rates than wild-type ones and sound-evoked spiking in auditory neurons was sparse and only partially improved during longer interstimulus intervals. We conclude that replenishment does not match the release of vesicles at mutant active zones in vivo and a sufficient standing RRP therefore cannot be maintained. We propose that otoferlin is involved in replenishing synaptic vesicles.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Calcium Signaling / physiology
  • Deafness / metabolism*
  • Disease Models, Animal
  • Excitatory Postsynaptic Potentials / physiology
  • Hair Cells, Auditory, Inner / metabolism*
  • Hair Cells, Auditory, Inner / ultrastructure
  • Hearing / physiology*
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Neurologic Mutants
  • Mutation, Missense
  • Synapses / metabolism
  • Synapses / ultrastructure
  • Synaptic Vesicles / genetics
  • Synaptic Vesicles / metabolism*
  • Synaptic Vesicles / ultrastructure

Substances

  • Membrane Proteins
  • otoferlin protein, mouse