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

H C Dodson1, M Charalabapoulou

  • 1Institute of Laryngology and Otology, University College London, 330/335 Gray's Inn Road, London WC1X 8EE, UK. h.dodson@ucl.ac.uk

Journal of Neurocytology
|March 5, 2002
PubMed
Summary

The Pmca2 gene mutation in deafwaddler mice causes structural damage in cochlear hair cells, spiral ganglion neurons, and cochlear nucleus cells, leading to hearing loss and neurological defects.

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Area of Science:

  • Neuroscience
  • Genetics
  • Otolaryngology

Background:

  • Deafwaddler mice (dfw/dfw) possess a mutation in the plasma membrane Ca2+-ATPase isoform 2 (Pmca2) gene.
  • This mutation results in observable phenotypes including deafness, a wobbly gait, and head bobbing.

Purpose of the Study:

  • To investigate the morphological changes in the cochlea, spiral ganglion cells, and cochlear nucleus of dfw/dfw mice.
  • To correlate these structural abnormalities with the Pmca2 mutation and calcium dysregulation.

Main Methods:

  • Light and transmission electron microscopy were employed.
  • Analysis of homozygous (dfw/dfw) and heterozygous mice at various ages, alongside controls.

Main Results:

  • Outer hair cells showed apoptosis and stereocilia loss; inner hair cells and afferent terminals were present but abnormal.

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  • Spiral ganglion cells exhibited abnormal morphology, reduced organelles, and hypertrophied mitochondria in older mutants.
  • Cochlear nucleus spherical cells were smaller, and their synapses (end bulbs of Held) displayed swelling, reduced synaptic densities, and abnormal vesicle arrangement, suggesting functional impairment.

    • Conclusions:

    • The Pmca2 mutation induces widespread structural abnormalities in auditory pathways, including hair cells, spiral ganglion neurons, and cochlear nucleus spherical cells.
    • Calcium accumulation due to the Pmca2 mutation is implicated as the likely cause of these structural and potential functional deficits.