GJB2基因p.V37I变异致病机制研究进展

Research progress on the pathogenic mechanism of p.V37I mutation in GJB2 gene

GJB2基因p.V37I(c.109G>A)变异在中国人群的携带率较高,该变异早期被认为是非致病变异,但大量研究表明其与迟发性及轻至中度听力损失密切相关,且具有表现相对温和、外显率低等特点。本文就近年GJB2基因p.V37I变异在致病机制方面的研究进展进行文献综述,其可能的致病机制归纳为:缝隙连接蛋白合成受阻,缝隙连接的门控功能削弱,缝隙连接的通道功能减退,耳蜗处于易感状态及耳蜗放大功能受损。通过对其致病机制的探讨,旨在为临床和科研提供理论依据。

The GJB2 gene p.V37I(c.109G>A)mutation site has a higher carrying rate in the Chinese population.p.V37I was considered to be a non-pathogenic mutation in the beginning,but a large number of studies have shown that it is closely related to delayed hearing loss,mild to moderate hearing loss,and has relatively mild effect with a low penetrance rate.In this review,the research progress of the pathogenesis mechanism of the GJB2 gene p.V37I mutation in recent years is summarized in the literature.The possible pathogenic mechanisms are summarized as follows:the synthesis of gap junction protein is affected,the gating function of the gap junction is affected,the channel function of the gap junction is affected,the mutation makes the cochlea in a susceptible state,mutation leads to impaired the cochlear implant.Through the discussion of its pathogenic mechanism,it aims to provide a theoretical basis for clinical and scientific research.