A recent study investigated the role of DHX38, a DEAH box RNA helicase, in the development of the inner ear using a zebrafish model.

The findings revealed that DHX38 knockout zebrafish exhibited significant inner ear defects, including smaller otic vesicles and a lack of semicircular canal protrusions.

This research demonstrated that DHX38 is essential for the correct splicing of genes involved in DNA repair and inner ear morphogenesis, indicating that splicing errors can lead to developmental defects.

Moreover, the loss of DHX38 was found to activate the p53 apoptosis pathway, contributing to cell death in the developing inner ear.

These structural abnormalities were linked to DNA damage and increased apoptosis in inner ear cells, underscoring DHX38's critical role in cell survival during development.

To assess inner ear development and apoptosis, the study utilized a combination of methods including morphological analysis, in situ hybridization, and TUNEL assays.

Overall, this research provides valuable insights into the genetic factors influencing hearing loss and proposes a model for studying inner ear development and potential therapeutic interventions.

The study contributes to the understanding of the genetic basis of hearing loss, which affects over 1.5 billion people globally, with genetic factors accounting for more than 50% of cases.