
Communications Biology, Год журнала: 2024, Номер 7(1)
Опубликована: Ноя. 1, 2024
Polycystic Kidney and Hepatic Disease 1-Like 1 (PKHD1L1) is a human deafness gene, responsible for autosomal recessive deafness-124 (DFNB124). Sensory hair cells of the cochlea are essential hearing, relying on mechanosensitive stereocilia bundle at their apical pole function. PKHD1L1 protein required formation developmentally transient surface coat. In this study, we carry out an in depth characterization expression mice during development adulthood, analyze hair-cell morphology hearing function aging PKHD1L1-deficient mouse lines, assess susceptibility to noise damage. Our findings reveal that display no disruption cohesion or tectorial membrane attachment-crown development. However, starting from 6 weeks age, missing disruptions coherence. Both conditional constitutive knockout develop high-frequency loss progressing lower frequencies with age. Furthermore, susceptible permanent following moderate acoustic overexposure, which induces only temporary threshold shifts wild-type mice. These results suggest role establishing robust sensory bundles development, necessary maintaining response trauma aging. Characterization deficient developmental PKHD1L1, it bundles, resilient exposure
Язык: Английский