AI Article Synopsis
- Peroxisome biogenesis disorders caused by gene mutations can lead to severe symptoms, including hearing impairment and early childhood death.
- A study on mice with these mutations showed normal hearing development at first, but they later experienced increasing hearing loss linked to issues in synapses beneath inner ear hair cells.
- The research indicated that local expression of certain genes in the cochlea is crucial for normal hearing and identified a reduction in plasmalogens in the inner ear, mirroring findings in humans with similar disorders.
Article Abstract
Peroxisome biogenesis disorders (due to 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 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 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 mouse mutants, comparable to the systemic plasmalogen reduction reported in human peroxisome biogenesis disorders. Thus, mice with mutations may be a useful tool to understand the physiological basis of peroxisome biogenesis disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600510 | PMC |
| http://dx.doi.org/10.3390/cells11203206 | DOI Listing |
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