Friday, September 8, 2023

A Leap Towards Curing Genetic Deafness

In recent years, gene therapy has surfaced as a beacon of hope for those grappling with genetic hearing loss, showcasing promising results in neonatal mice. However, when it comes to adults, the complex structure of the cochlea, nestled within the temporal bone, has made treatment significantly more challenging. A recent study reported results that could change this narrative, opening new avenues in auditory research with the potential to revolutionize treatment for progressive genetic-mediated hearing loss in adults.

The crux of this breakthrough lies in the innovative method of gene delivery through the cerebrospinal fluid (CSF), a channel that has not been explored extensively in previous research. This study illuminates the lymphatic-like characteristics exhibited by the cochlear aqueduct in mice, indicating a pathway for the diffusion of gene therapy to the inner ear. Leveraging in vivo time-lapse magnetic resonance imaging, computed tomography, and optical fluorescence microscopy, the research team traced the journey of large-particle tracers from the CSF to the inner ear, demonstrating a viable route for targeted gene delivery.

By utilizing a single intracisternal injection of an adeno-associated virus carrying the Slc17A8 gene, known for encoding the vesicular glutamate transporter-3 (VGLUT3), the researchers successfully restored hearing in adult deaf mice. This restoration was achieved without any discernible ectopic expression in the brain or the liver, emphasizing the precision of this approach.

This pivotal study marks a significant stride in auditory research, presenting a feasible and innovative method to treat genetic deafness in adults, a segment that was previously considered hard to reach due to the risks associated with potential damage to inner ear structures. The CSF administration through the cochlear aqueducts emerges as a promising route, promising not just advancements in rodent studies but potentially paving the way for human applications.

In essence, this research might herald a new era where genetic deafness in adults could be treated more effectively and safely. As the world of medical science stands on the brink of this significant advancement, it brings renewed hope and anticipation for individuals affected by progressive genetic-mediated hearing loss, inching us closer to a future where hearing restoration is within reach for all.


Mathiesen BK, Miyakoshi LM, Cederroth CR, Tserga E, Versteegh C, Bork PA, Hauglund NL, Gomolka RS, Mori Y, Edvall NK, Rouse S. Delivery of gene therapy through a cerebrospinal fluid conduit to rescue hearing in adult mice. Science Translational Medicine. 2023 Jun 28;15(702):eabq3916.

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