Use of sptbn1 as target in treatment of GJB2-related sensorineural hearing loss

By regulating the SPTBN1 protein and promoting the retransportation of the Cx26 mutant to the cell membrane, the treatment challenge of GJB2-related sensorineural hearing loss has been solved, providing a new therapeutic target and method. This avoids the risks and economic burden of traditional treatments and achieves the salvage of hearing loss.

WO2026113152A1PCT designated stage Publication Date: 2026-06-04XIEHE HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI & TECH UNIV
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Patent Information

Authority / Receiving Office
WO · WO
Patent Type
Applications
Current Assignee / Owner
XIEHE HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI & TECH UNIV
Filing Date
2025-02-19
Publication Date
2026-06-04

AI Technical Summary

Technical Problem

There are few reports on the membrane transport pathway of Cx26 and the key regulatory proteins in the membrane transport process in the existing technology, which makes the treatment of GJB2-related sensorineural hearing loss face great challenges.

Method used

By regulating the SPTBN1 protein, the retransport of Cx26 mutants to the cell membrane was promoted. Using SPTBN1 as a target, a stable cell line was constructed. IP-MS analysis, immunofluorescence observation, immunoprecipitation verification, and Western blotting were performed to verify the interaction and co-localization of SPTBN1 and Cx26. SPTBN1 was knocked down using siRNA to promote the membrane transport of Cx26.

Benefits of technology

Successfully promoted the retransportation of the Cx26 mutant to the cell membrane, salvaging GJB2-related hearing loss, providing new therapeutic targets and methods, avoiding the risks and economic burden of cochlear implant surgery, and improving the targeting and time window of treatment.

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Abstract

The present invention belongs to the technical field of sensorineural hearing. Provided is the use of SPTBN1 as a target in the treatment of GJB2-related sensorineural hearing loss. The use comprises: the construction of a stably transfected cell line, wherein: HEK293T cells are cultured using a DMEM culture medium supplemented with 10% fetal bovine serum and 1% penicillin-streptomycin in a humidified incubator at 37ºC with 95% air and 5% CO2, and when the cells reach 80%-90% confluence, cell passage is performed; IP-MS analysis, wherein: protein complexes are purified using Protein A / G immunoprecipitation magnetic beads, a portion of the extracted proteins is used as input, and then 2 μg of anti-Cx26 antibody is added to the remaining protein extract, same are gently pipetted and mixed, and incubated on a rotating shaker at 4℃ overnight; immunofluorescence observation of the co-localization of Cx26 and SPTBN1, wherein: a stably transfected cell line expressing WT-Cx26 and Mut-Cx26 is constructed; and co-immunoprecipitation (Co-IP) validation, wherein: a stably transfected cell line expressing WT-Cx26 is constructed. The present invention overcomes the limitations of therapeutic methods, such as the relatively low targeting specificity and short therapeutic time windows associated with full-length protein supplementation via gene therapy, thereby providing new insight into GJB2-related hearing loss, and a new target and a new treatment for same.
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