Advancements in Gene Editing Offer Hope for Adult-Inherited Progressive Deafness

Recent research has demonstrated significant progress in the use of gene editing techniques to treat inherited forms of progressive deafness in adults. A study published in the Journal of Clinical Investigation showcases how a carefully designed, single-dose gene therapy successfully restored hearing and balance in adult mice affected by DFNA41, a genetic condition linked to hearing loss in humans. Led by Zheng-Yi Chen of Mass Eye and Ear, the study utilized a viral vector, specifically an adeno-associated virus (AAV), to deliver precise genome-editing tools directly into the inner ear. This targeted approach specifically disabled the harmful mutation associated with the disease, while leaving the healthy gene unaffected.

The treated mice experienced long-term recovery of hearing and vestibular function, and the intervention also provided protection against noise-induced hearing loss, a common aggravating factor in such genetic disorders. The researchers used advanced CRISPR-Cas9 technology to selectively disable the mutant allele of the P2RX2 gene, which carries a specific mutation (V60L) responsible for DFNA41. The delivery was minimally invasive, through a surgical injection into the ear’s round window, a procedure feasible in clinical settings.

Furthermore, the safety and accuracy of the gene editing were confirmed through genetic sequencing and tissue analysis, with minimal off-target effects. The therapy's efficacy was validated in human patient-derived stem cells, indicating promising potential for clinical application. The study emphasizes the importance of early intervention, as early treatment yielded better outcomes, and highlights the possibility of protecting patients from further damage due to environmental noise.

This research paves the way for first-in-human trials aimed at correcting specific genetic mutations causing hearing loss in adults. The approach's precision and long-lasting effects demonstrate a significant breakthrough in the field of genetic hearing loss treatment, moving beyond early developmental stages to address adult-onset conditions. As the team prepares for further studies, this innovative strategy underscores the growing promise of personalized, gene-specific therapies for inherited deafness, with the potential to transform treatment paradigms in otolaryngology and regenerative medicine.

Source: https://medicalxpress.com/news/2025-08-laying-foundation-gene-inherited-deafness.html