The diagnostic value and associated molecular mechanism study for fibroblast-related mitochondrial genes on keloid.

IF 2 4区 医学 Q3 DERMATOLOGY Skin Research and Technology Pub Date : 2024-09-01 DOI:10.1111/srt.70024
Ting Wei, Zuojiao Xu
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引用次数: 0

Abstract

Purpose: This study aims to reveal the mechanism of fibroblast-related mitochondrial genes on keloid formation and explore promising signature genes for keloid diagnosis.

Method: The distribution of fibroblasts between the keloid sample and control sample based on three keloid datasets, followed by the differentially expressed genes (DEGs) investigation and associated enrichment analysis. Then, hub genes were explored based on DEGs, mitochondrial genes from an online database, as well as fibroblast-related genes that were revealed by WCGNA. Subsequently, signature genes were screened through machine learning, and their diagnostic value was validated by nomogram. Moreover, the targeted drugs and related transcriptional regulation of these genes were analyzed. Finally, the verification analysis was performed on signature genes using qPCR analysis.

Result: A total of totally 329 DEGs were revealed based on three datasets, followed by enrichment analysis. WGCNA revealed a total of 258 fibroblast-related genes, which were primarily assembled in functions like muscle tissue development. By using machine learning, we screened four signature genes (ACSF2, ALDH1B1, OCIAD2, and SIRT4) based on eight hub genes (fibroblast-related mitochondrial genes). Nomogram and validation analyses confirmed the well-diagnostic performance of these four genes in keloid. Immune infiltration and drug correlation analyses showed that SIRT4 was significantly associated with immune cell type 2 T helper cells and molecular drug cyclosporin. All these findings provided new perspectives for the clinical diagnosis and therapy of keloid.

Conclusion: The fibroblast-related mitochondrial genes including SIRT4, OCIAD2, ALDH1B1, and ACSF2 were novel signature genes for keloid diagnosis, offering novel targets and strategies for diagnosis and therapy of keloid.

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成纤维细胞相关线粒体基因对瘢痕疙瘩的诊断价值及相关分子机制研究。
目的:本研究旨在揭示成纤维细胞相关线粒体基因对瘢痕疙瘩形成的作用机制,并探索有望用于瘢痕疙瘩诊断的特征基因:方法:基于三个瘢痕疙瘩数据集,研究成纤维细胞在瘢痕疙瘩样本和对照样本中的分布,然后进行差异表达基因(DEGs)调查和相关富集分析。然后,根据 DEGs、在线数据库中的线粒体基因以及 WCGNA 揭示的成纤维细胞相关基因,探索中心基因。随后,通过机器学习筛选出特征基因,并通过提名图验证其诊断价值。此外,还分析了这些基因的靶向药物和相关转录调控。最后,利用 qPCR 分析对特征基因进行了验证分析:结果:基于三个数据集的富集分析共揭示了 329 个 DEGs。WGCNA共揭示了258个成纤维细胞相关基因,这些基因主要集合在肌肉组织发育等功能中。通过机器学习,我们在八个中心基因(成纤维细胞相关线粒体基因)的基础上筛选出了四个特征基因(ACSF2、ALDH1B1、OCIAD2 和 SIRT4)。提名图和验证分析证实了这四个基因在瘢痕疙瘩中的良好诊断性能。免疫浸润和药物相关性分析表明,SIRT4与免疫细胞2型T辅助细胞和分子药物环孢素显著相关。所有这些发现为瘢痕疙瘩的临床诊断和治疗提供了新的视角:包括SIRT4、OCIAD2、ALDH1B1和ACSF2在内的成纤维细胞相关线粒体基因是瘢痕疙瘩诊断的新型特征基因,为瘢痕疙瘩的诊断和治疗提供了新的靶点和策略。
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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来源期刊
Skin Research and Technology
Skin Research and Technology 医学-皮肤病学
CiteScore
3.30
自引率
9.10%
发文量
95
审稿时长
6-12 weeks
期刊介绍: Skin Research and Technology is a clinically-oriented journal on biophysical methods and imaging techniques and how they are used in dermatology, cosmetology and plastic surgery for noninvasive quantification of skin structure and functions. Papers are invited on the development and validation of methods and their application in the characterization of diseased, abnormal and normal skin. Topics include blood flow, colorimetry, thermography, evaporimetry, epidermal humidity, desquamation, profilometry, skin mechanics, epiluminiscence microscopy, high-frequency ultrasonography, confocal microscopy, digital imaging, image analysis and computerized evaluation and magnetic resonance. Noninvasive biochemical methods (such as lipids, keratin and tissue water) and the instrumental evaluation of cytological and histological samples are also covered. The journal has a wide scope and aims to link scientists, clinical researchers and technicians through original articles, communications, editorials and commentaries, letters, reviews, announcements and news. Contributions should be clear, experimentally sound and novel.
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