中华耳科学杂志2025，Vol.23Issue(8)：928-934,7.DOI:10.3969/j.issn.1672-2922.2025.08.004
LINC01224、miR-193a-5p、ELMOD3 c.512A>G在感音神经性耳聋患者中的筛查分析
Screening of LINC01224,miR-193a-5p and ELMOD3 c.512A>G in Patients with Sensorineural Hearing Loss
摘要
Abstract
Objective To investigate the correlation between LINC01224,miR-193a-5p,and ELMOD3 c.512A>G mutations and sensorineural hearing loss(SNHL),as well as the significance of their clinical screening by analyzing their expression profiles in peripheral blood in patients with SNHL.Methods Potential miRNAs regulating ELMOD3 were predicted using TargetScan,RNAInter and miRDB databases,followed by Venn diagram intersection analysis.The starBase database was employed to predict lncRNA/miRNA-ELMOD3 regulatory networks.Dual-luciferase reporter assays were conducted to validate targeting interactions among predicted lncRNAs,miRNAs,and ELMOD3.A cohort of 24 patients with SNHL diagnosed at the Department of Otolaryngology-Head and Neck Surgery,Eighth Affiliated Hospital of Sun Yat-Sen University from January 2023 to January 2024 and 12 normal-hearing volunteers were enrolled.SYBR Green-based RT-qPCR was performed to quantify LINC01224 and miR-193a-5p expression in peripheral blood,while Sanger sequencing screened for the ELMOD3 c.512A>G mutation.Relative expression levels were calculated using the 2-ΔΔCt method,followed by statistical analysis.Results Integrated database analysis identified 31 high-confidence miRNAs targeting ELMOD3.LINC01224 and miR-193a-5p were selected as core molecules based on starBase predictions and prior evidence.Dual-luciferase assays confirmed direct targeting between LINC01224/ELMOD3 and miR-193a-5p.LINC01224 expression was significantly upregulated in the SNHL group compared to controls(P<0.0001),whereas miR-193a-5p was downregulated(P<0.0001).The ELMOD3 c.512A>G mutation was undetected in both groups.Conclusion Bioinformatic predictions suggest LINC01224 and miR-193a-5p as upstream regulators of ELMOD3.The significant differential expression of LINC01224(↑)and miR-193a-5p(↓)in SNHL patients highlights their potential association with disease pathogenesis and warrants further investigation as diagnostic serum biomarkers.The absence of ELMOD3 c.512A>G mutations in this cohort necessitates expanded sample sizes and whole-exon sequencing of ELMOD3 to identify novel pathogenic variants and validate its role as a hotspot gene/locus in SNHL.关键词
感音神经性耳聋/ELMOD3/LINC01224/miR-193a-5pKey words
sensorineural hearing loss/ELMOD3/LINC01224/miR-193a-5p引用本文复制引用
王喜悦,温馨,周逸云,张彩虹,孙捷..LINC01224、miR-193a-5p、ELMOD3 c.512A>G在感音神经性耳聋患者中的筛查分析[J].中华耳科学杂志,2025,23(8):928-934,7.基金项目
广东省深圳市福田区卫生健康系统科研项目(FTWS2022017) （FTWS2022017）
