Dual-vector system for expressing Otoferlin protein and application thereof

By using a dual-vector system and AAV delivery technology, Otoferlin protein was expressed, which solved the hearing impairment caused by Otof gene mutation and achieved the restoration of inner hair cell function and improvement of hearing.

CN121362794APending Publication Date: 2026-01-20OTOVIA THERAPEUTICS
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Patent Information

Application Number
CN202410963858.1
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2024-07-18
Publication Date
2026-01-20

AI Technical Summary

Technical Problem

Currently, there are no effective drug treatments for non-syndromic hearing loss (ANSD) caused by Otof gene mutations. Existing treatments such as hearing aids and cochlear implants have limitations and significant individual variability. Patients urgently need fundamental drug treatment.

Method used

A dual-vector system was used, comprising first and second nucleic acid vectors, which express the N-terminal and C-terminal coding sequences of the Otoferlin protein, respectively, and delivered to the inner hair cells of the cochlea via adeno-associated virus (AAV) to achieve the expression and functional restoration of the Otoferlin protein.

Benefits of technology

It significantly restored the synaptic vesicle release function of inner hair cells, improved hearing, especially in the low-frequency range, and achieved the hearing restoration effect of gene therapy.

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Abstract

The present invention relates to a dual vector system for expressing Otoferlin protein, comprising a first nucleic acid vector and a second nucleic acid vector wherein the first nucleic acid vector comprises a first nucleotide sequence; the second nucleic acid vector comprises a second nucleotide sequence; the first nucleotide sequence comprises an expression cassette inserted between two first ITR sequences; the second nucleotide sequence comprises an expression cassette inserted between two second ITR sequences; the expression cassette of the first nucleotide sequence comprises a promoter, an N-terminal coding sequence of Otoferlin, an N-terminal coding sequence of intein and polyA; the expression cassette of the second nucleotide sequence comprises a promoter, a C-terminal coding sequence of intein, a C-terminal coding sequence of Otoferlin and polyA, wherein the first amino acid of the C-terminal coding sequence of Otoferlin is mutated into serine (S), threonine (T) or cysteine (C). The invention also relates to a packaging carrier system of the adeno-associated virus, a packaging method of the adeno-associated virus and the adeno-associated virus obtained by the method. The dual vector system or adeno-associated virus for expressing the Otoferlin protein of the present invention can be used in gene therapy, particularly in the treatment of hearing loss, such as in the treatment of Oof gene mutation associated autosomal recessive hereditary hearing loss 9 (DFNB9).
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