与年龄相关性听力损失相关的线粒体相关基因的分析和鉴定。

IF 3.7 2区 生物学 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY BMC Genomics Pub Date : 2025-03-05 DOI:10.1186/s12864-025-11287-5
Tianyu Ma, Xiaoyun Zeng, Mengting Liu, Shijia Xu, Yuyao Wang, Qilong Wu, Tianhong Zhang
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引用次数: 0

摘要

背景:探讨在年龄相关性听力损失(age-related hearing loss, ARHL)发生发展中起关键作用的线粒体基因,为研究ARHL的发病机制提供依据。结果:在GSE49543数据集中检测到503个差异表达基因(deg)。233个基因上调,270个基因下调。线粒体基因库中有1140个基因,其中与ARHL相关的差异表达基因28个。这些基因主要参与线粒体呼吸链复合体组装、小分子分解代谢、NADH脱氢酶复合体组装、有机酸分解代谢、前体代谢产物和能量产生以及线粒体跨膜运输、活性氧的代谢过程。然后,Cytoscape软件鉴定出三个关键基因:Aco2, Bcs1l和Ndufs1。免疫荧光和Western blot实验证实,老化耳蜗毛细胞中三个关键基因的蛋白含量下降。结论:通过生物信息学分析筛选到503个差异表达基因,鉴定出3个与ARHL相关的关键基因。随后,我们进行了体外实验验证其意义,从而为进一步阐明线粒体功能在ARHL发病和进展中的作用提供了有价值的参考。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Analysis and identification of mitochondria-related genes associated with age-related hearing loss.

Background: To explore the mitochondrial genes that play a key role in the occurrence and development of age-related hearing loss (ARHL) and provide a basis for the study of the mechanism of ARHL.

Results: 503 differentially expressed genes (DEGs) were detected in the GSE49543 dataset. 233 genes were up-regulated, and 270 genes were down-regulated. There are 1140 genes in the mitochondrial gene bank, and 28 differentially expressed genes related to ARHL. These genes are mainly involved in mitochondrial respiratory chain complex assembly, small molecule catabolism, NADH dehydrogenase complex assembly, organic acid catabolism, precursor metabolites and energy production, and mitochondrial span Membrane transport, metabolic processes of active oxygen species. Then, Cytoscape software identified the three key genes: Aco2, Bcs1l and Ndufs1. Immunofluorescence and Western blot experiments confirmed that the protein content of three key genes in aging cochlear hair cells decreased.

Conclusion: We employed bioinformatics analysis to screen 503 differentially expressed genes and identified three key genes associated with ARHL. Subsequently, we conducted in vitro experiments to validate their significance, thereby providing a valuable reference for further elucidating the role of mitochondrial function in the pathogenesis and progression of ARHL.

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来源期刊
BMC Genomics
BMC Genomics 生物-生物工程与应用微生物
CiteScore
7.40
自引率
4.50%
发文量
769
审稿时长
6.4 months
期刊介绍: BMC Genomics is an open access, peer-reviewed journal that considers articles on all aspects of genome-scale analysis, functional genomics, and proteomics. BMC Genomics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.
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