PMCA2 mutation causes structural changes in the auditory system in deafwaddler mice

J Neurocytol. 2001 Apr;30(4):281-92. doi: 10.1023/a:1014489527996.

Abstract

Homozygous deafwaddler mice (dfw/dfw) have a mutation in the gene encoding plasma membrane Ca2+ATPase isoform 2 (Pmca2). They walk with a hesitant and wobbly gait, display head bobbing and are deaf. Light microscopy and transmission electron microscopy were used to evaluate the nature and relationship of morphological changes in the cochlea, spiral ganglion cells and spherical cells of the cochlear nucleus in homozygous and heterozygous mice of different ages and controls. Ultrastructural findings showed that in 7 week old homozygous (dfw) mice, inner hair cells and their afferent terminals were present although outer hair cells appeared apoptotic. Stereocilia were absent from the second and third rows of outer hair cells. Ganglion cells were also present although abnormal in appearance. In older homozygous mutants there was a loss of hair cells and spiral ganglion cells. Remaining ganglion cells in this group contained very few cytoplasmic organelles apart from a few hypertrophied mitochondria. In the anteroventral cochlear nucleus, spherical cell soma size was smaller in all homozygous (dfw) mutants than in heterozygous mice and controls. The ultrastructural appearance of the end bulbs of Held in homozygous mutants was abnormal compared with controls, and in the younger group were seen to be swollen, with less distinct synaptic densities and containing large numbers of small synaptic vesicles arranged in clumps. In the older group these synapses were distorted and contained hypertrophied mitochondria and no synaptic densities could be seen, suggesting that these synapses may be non-functional. This study has shown that in homozygous (dfw) mice structural abnormalities occurred not only in cochlear hair cells but also in the spiral ganglion neurones and spherical cells in the cochlear nucleus. It seems likely that these changes are the result of the Pmca2 mutation and the subsequent accumulation of toxic levels of calcium that may lead to alterations in their functional integrity.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Auditory Pathways / enzymology
  • Auditory Pathways / pathology
  • Auditory Pathways / ultrastructure
  • Calcium-Transporting ATPases / genetics*
  • Cation Transport Proteins
  • Cochlea / enzymology
  • Cochlea / pathology*
  • Cochlea / ultrastructure
  • Cochlear Nucleus / enzymology
  • Cochlear Nucleus / pathology*
  • Cochlear Nucleus / ultrastructure
  • Deafness / enzymology*
  • Deafness / genetics*
  • Deafness / pathology
  • Hair Cells, Auditory / enzymology
  • Hair Cells, Auditory / pathology
  • Hair Cells, Auditory / ultrastructure
  • Isoenzymes / genetics
  • Mice
  • Mice, Inbred C3H
  • Mice, Neurologic Mutants
  • Mutation / genetics*
  • Plasma Membrane Calcium-Transporting ATPases
  • Spiral Ganglion / enzymology
  • Spiral Ganglion / pathology
  • Spiral Ganglion / ultrastructure

Substances

  • Cation Transport Proteins
  • Isoenzymes
  • Plasma Membrane Calcium-Transporting ATPases
  • Atp2b2 protein, mouse
  • Calcium-Transporting ATPases