AI Article Synopsis
- Increasing noise in our daily lives may impact hearing, and a specific ABCC1 gene variant has been identified in a family with autosomal dominant non-syndromic hearing loss.
- Researchers used a knock-in mouse model to study this ABCC1 mutation and discovered that low-intensity noise combined with the mutation exacerbated hearing loss symptoms.
- The imbalance of important substances GSH and GSSG in the cochlea during noise exposure may lead to irreversible damage to hair cells, suggesting new approaches for managing hereditary hearing loss.
Article Abstract
With the development of the social economy, we are exposed to increasing noise in our daily lives. Our previous work found an ABCC1(NM_004996.3:c.A1769G, NP_004987.2:p.N590S) variant which cosegregated with the patients in an autosomal dominant non-syndromic hearing loss family. At present, the specific mechanism of deafness caused by ABCC1 mutation is still not clear. Using the knock-in mouse model simulating human ABCC1 mutation, we found that the occurrence of family-related phenotypes was likely attributed to the combination of the mouse genotype and low-intensity noise. GSH and GSSG are important physiological substrates of ABCC1. The destruction of GSH-GSSG balance in the cochleae of both Abcc1 mice and Abcc1 mice during low-intensity noise exposure may result in irreversible damage to the hair cells of the cochleae, consequently leading to hearing loss in mice. The findings offered a potential novel idea for the prevention and management of hereditary hearing loss within this family.
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| http://dx.doi.org/10.1111/cge.14582 | DOI Listing |
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