DATE2025.03.11 #Press Releases
Genome Editing Technology Developed for Hereditary Hearing Loss
--New Hearing Loss Treatment Technology to Repair Abnormal Proteins in the Inner Ear --
Summary
A joint research group, including Associate Professor Kazusaku Kamiya and Part-time Assistant Professor Takao Ukaji from the Department of Otorhinolaryngology at Juntendo University Faculty of Medicine, along with Professor Osamu Nureki from the Department of Biological Sciences at the Graduate School of Science, the University of Tokyo, has developed a new technology to repair genetic mutations in the inner ear of patients with hereditary hearing loss. This technology combines an innovative gene delivery system with gene-editing techniques to efficiently restore abnormal inner ear proteins, offering a potential fundamental treatment for hereditary hearing loss, which previously had no cure.
Most congenital hearing loss is caused by genetic mutations, with mutations in the GJB2 gene being the most common cause. While research on gene supplementation therapy for GJB2 and other genes has been progressing worldwide, this approach is ineffective for dominant (dominant-inherited) genetic mutations. In such cases, genome editing is necessary to rewrite the faulty genetic information. However, due to technical challenges such as gene size and editing efficiency, no effective method had been developed until now.
In this study, the research team successfully developed a gene therapy technique for hereditary hearing loss by combining an adeno-associated virus (AAV)-based inner ear gene delivery method, originally developed at Juntendo University, with a cutting-edge genome editing technology (SaCas9-NNG-ABE) developed at the University of Tokyo. This approach enabled the efficient correction of mutations in the GJB2 gene, leading to the restoration of normal inner ear protein function.
This research paper was published online in JCI Insight on March 11, 2025 (Japan time).
Figure: Construction of an inner ear genome platform for centralized repair of hereditary hearing loss anomalies
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