ELMOD3基因与耳聋的研究进展OA

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.