Yilmaz Nevra Keskin, Ozen Dogukan, da Costa Monsanto Rafael, Ocak Emre, Schuster Artur Koerig, Shimura Tomotaka, Cureoglu Sebahattin
Department of Internal Medicine Faculty of Veterinary Medicine, Ankara University Ankara Turkey.
Department of Otolaryngology Head & Neck Surgery University of Minnesota Minneapolis Minnesota USA.
Laryngoscope Investig Otolaryngol. 2024 Dec 9;9(6):e70048. doi: 10.1002/lio2.70048. eCollection 2024 Dec.
Sensorineural hearing loss (SNHL) is a disorder characterized by the loss or impairment of cochlear hair cells or the auditory nerve. In recent years, gene therapy has emerged as a promising approach for SNHL treatment. The objective of this study is to evaluate the impact of gene therapy on the restoration or improvement of auditory function in mouse model with loss or impairment of hearing.
Studies with clear experimental designs, and auditory brainstem response (ABR) analysis as relevant outcome measures were included by searching PubMed, Scopus, and Web of Science databases. The PRISMA guideline was used for abstracting data and assessing data quality and validity. A quantitative synthesis was performed using a random effects model to examine the effect of gene therapy on auditory function in SNHL.
Nine articles including 71 studies meeting the inclusion criteria were identified. These studies explored therapies targeting the TMC1, VGLUT3, USH1C, CLRN1, WHRN, and PJVK genes, with genetic material ranging from 1.8 × 10 and 1.4 × 10 gc/mL being delivered to the inner ear through round window membrane, cochleostomy, or posterior semicircular canal injection methods. The hearing test results showed a significant mean difference of 26.91 dB (95% CI: 22.01-31.85) in favor of the experimental group.
Although promising results have been obtained regarding the potential success of gene therapy in SNHL, further investigation is needed to explore the long-term effects of gene therapy, treatment response rates, and the relationships between different genetic mutation types.
感音神经性听力损失（SNHL）是一种以耳蜗毛细胞或听神经受损或丧失为特征的疾病。近年来，基因治疗已成为一种有前景的SNHL治疗方法。本研究的目的是评估基因治疗对听力丧失或受损小鼠模型听觉功能恢复或改善的影响。
通过检索PubMed、Scopus和Web of Science数据库，纳入具有明确实验设计并以听觉脑干反应（ABR）分析作为相关结局指标的研究。采用PRISMA指南提取数据并评估数据质量和有效性。使用随机效应模型进行定量综合分析，以检验基因治疗对SNHL听觉功能的影响。
共纳入9篇文章，其中71项研究符合纳入标准。这些研究探索了针对TMC1、VGLUT3、USH1C、CLRN1、WHRN和PJVK基因的治疗方法，遗传物质通过圆窗膜、耳蜗造瘘术或后半规管注射法输送至内耳，浓度范围为1.8×10至1.4×10 gc/mL。听力测试结果显示，实验组平均差异显著，为26.91 dB（95%CI：22.01 - 31.85）。
尽管基因治疗在SNHL方面取得了有前景的结果，但仍需要进一步研究来探索基因治疗的长期效果、治疗反应率以及不同基因突变类型之间的关系。
