| First Author | Kochaj RM | Year | 2022 |
| Journal | Cells | Volume | 11 |
| Issue | 20 | PubMed ID | 36291074 |
| Mgi Jnum | J:333363 | Mgi Id | MGI:7383348 |
| Doi | 10.3390/cells11203206 | Citation | Kochaj RM, et al. (2022) The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear. Cells 11(20) |
| abstractText | 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. |
