The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear

Rafael Kochaj, Elisa Martelletti, Neil Ingham, Annalisa Buniello, Bebiana Sousa, Michael Wakelam, Andrea Lopez-Clavijo, Karen Steel*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Peroxisome biogenesis disorders (due to PEX gene mutations) are associated with symptoms
that range in severity and can lead to early childhood death, but a common feature is hearing
impairment. In this study, mice carrying Pex3 mutations were found to show normal auditory development
followed by an early-onset progressive increase in auditory response thresholds. The only
structural defect detected in the cochlea at four weeks old was the disruption of synapses below inner
hair cells. A conditional approach was used to establish that Pex3 expression is required locally within
the cochlea for normal hearing, rather than hearing loss being due to systemic effects. A lipidomics
analysis of the inner ear revealed a local reduction in plasmalogens in the Pex3 mouse mutants,
comparable to the systemic plasmalogen reduction reported in human peroxisome biogenesis disorders.
Thus, mice with Pex3 mutations may be a useful tool to understand the physiological basis of
peroxisome biogenesis disorders.
Original languageEnglish
Article number3206
Pages (from-to)1-23
Number of pages23
Publication statusPublished - 13 Oct 2022


  • peroxisome disorders
  • hearing loss
  • lipidomics
  • mouse mutant
  • synaptic defect


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