中华耳科学杂志2026，Vol.24Issue(7)：659-663,5.DOI:10.3969/j.issn.1672-2922.2026.07.010
ELMOD3基因与耳聋的研究进展
Progress in research on ELMOD3 gene and its association with deafness
摘要
Abstract
The ELMOD3 gene,a pivotal regulator of small GTPases in the Ras superfamily,maintains the structure and function of stereocilia in cochlear hair cells by encoding a GTPase-activating protein that catalyzes the hydrolysis of the GTP bound to ARL2.Current studies have confirmed that the pathogenic mechanisms of ELMOD3 involve ARL2-mediated actin dynamic imbalance,dysregulation of the β-catenin pathway,and coordinated regulation of membrane remodeling and vesicle trafficking in conjunction with Flotillin2/Rab1A.Among these,mutation-induced ARL2-mediated actin dynamic imbalance is closely associated with the pathogenesis and progression of non-syndromic hearing loss(DFNA81/DFNB88).Animal models have demonstrated that ELMOD3 deficiency leads to abnormal arrangement of cochlear stereocilia,resulting in elevated hearing thresholds.This article systematically reviews the molecular functions of ELMOD3,the mechanisms underlying mutation-induced deafness,and recent research progress.A comprehensive understanding of the role of ELMOD3 in deafness will facilitate the development of novel therapeutic strategies.Future studies should focus on systematically dissecting the regulatory network of ELMOD3,elucidating its signaling pathways and pathogenic mechanisms,and developing gene therapy-based approaches as well as other innovative therapeutic modalities.关键词
ELMOD3/遗传性耳聋/耳聋基因/细胞骨架动力学Key words
ELMOD3/hereditary deafness/deafness genes/cytoskeletal dynamics引用本文复制引用
王喜悦,温馨,周逸云,张彩虹,孙捷..ELMOD3基因与耳聋的研究进展[J].中华耳科学杂志,2026,24(7):659-663,5.基金项目
深圳市福田区卫生健康系统科研项目(FTWS2022017) （FTWS2022017）
