Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice

Am J Hum Genet. 2008 Aug;83(2):278-92. doi: 10.1016/j.ajhg.2008.07.008.

Abstract

Autosomal-dominant sensorineural hearing loss is genetically heterogeneous, with a phenotype closely resembling presbycusis, the most common sensory defect associated with aging in humans. We have identified SLC17A8, which encodes the vesicular glutamate transporter-3 (VGLUT3), as the gene responsible for DFNA25, an autosomal-dominant form of progressive, high-frequency nonsyndromic deafness. In two unrelated families, a heterozygous missense mutation, c.632C-->T (p.A211V), was found to segregate with DFNA25 deafness and was not present in 267 controls. Linkage-disequilibrium analysis suggested that the families have a distant common ancestor. The A211 residue is conserved in VGLUT3 across species and in all human VGLUT subtypes (VGLUT1-3), suggesting an important functional role. In the cochlea, VGLUT3 accumulates glutamate in the synaptic vesicles of the sensory inner hair cells (IHCs) before releasing it onto receptors of auditory-nerve terminals. Null mice with a targeted deletion of Slc17a8 exon 2 lacked auditory-nerve responses to acoustic stimuli, although auditory brainstem responses could be elicited by electrical stimuli, and robust otoacoustic emissions were recorded. Ca(2+)-triggered synaptic-vesicle turnover was normal in IHCs of Slc17a8 null mice when probed by membrane capacitance measurements at 2 weeks of age. Later, the number of afferent synapses, spiral ganglion neurons, and lateral efferent endings below sensory IHCs declined. Ribbon synapses remaining by 3 months of age had a normal ultrastructural appearance. We conclude that deafness in Slc17a8-deficient mice is due to a specific defect of vesicular glutamate uptake and release and that VGLUT3 is essential for auditory coding at the IHC synapse.

Publication types

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

MeSH terms

  • Amino Acid Transport Systems, Acidic / genetics*
  • Amino Acid Transport Systems, Acidic / metabolism*
  • Amino Acid Transport Systems, Acidic / physiology
  • Animals
  • Chromosome Mapping
  • Deafness / genetics*
  • Disease Models, Animal
  • Genome
  • Hair Cells, Auditory / metabolism*
  • Humans
  • Linkage Disequilibrium
  • Mice
  • Mice, Knockout
  • Models, Genetic
  • Mutation
  • Polymorphism, Single Nucleotide
  • Vesicular Glutamate Transport Proteins / genetics*
  • Vesicular Glutamate Transport Proteins / metabolism*
  • Vesicular Glutamate Transport Proteins / physiology

Substances

  • Amino Acid Transport Systems, Acidic
  • SLC17A8 protein, human
  • Vesicular Glutamate Transport Proteins
  • vesicular glutamate transporter 3, mouse

Associated data

  • OMIM/162660
  • OMIM/601071
  • OMIM/603681
  • OMIM/605583
  • OMIM/607557