鉴定进行性多发性硬化症患者脉络膜丛差异表达基因的补充策略。

IF 2.7 4区 医学 Q2 COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS
Aline Beatriz Mello Rodrigues, Fabio Passetti, Ana Carolina Ramos Guimarães
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引用次数: 0

摘要

多发性硬化症(MS)是一种神经系统疾病,通过炎症和自身免疫过程引起髓磷脂和轴突损伤。尽管影响着全世界数百万人,但对其遗传途径的了解仍然有限。脉络膜丛(ChP)在神经退行性过程和多发性硬化症等疾病中因其失调而被研究,但其在多发性硬化症病理生理中的作用尚不清楚。我们的工作重新评估进展性MS患者的ChP转录组,并使用不同的方法学策略比较基因表达谱。使用患者和健康对照的死后患者脑组织RNASeq测序样本(GEO: GSE137619)。在对这些数据进行评估和质量控制后,他们使用三种策略对其转录本进行了定位和量化,以对照智人的参考转录组GRCh38/hg38,以识别进展性MS患者的差异表达基因。基因的功能分析揭示了它们参与免疫过程、细胞粘附和迁移、激素作用、氨基酸运输、趋化因子、金属和信号通路。我们的研究结果可以为渐进式MS治疗提供有价值的见解,表明特定基因影响免疫细胞募集和潜在的ChP微环境变化。结合互补的方法最大限度地扩大了文献覆盖,促进了对进展性多发性硬化症的生物学背景的更深层次的理解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Complementary Strategies to Identify Differentially Expressed Genes in the Choroid Plexus of Patients with Progressive Multiple Sclerosis.

Multiple sclerosis (MS) is a neurological disease causing myelin and axon damage through inflammatory and autoimmune processes. Despite affecting millions worldwide, understanding its genetic pathways remains limited. The choroid plexus (ChP) has been studied in neurodegenerative processes and diseases like MS due to its dysregulation, yet its role in MS pathophysiology remains unclear. Our work re-evaluates the ChP transcriptome in progressive MS patients and compares gene expression profiles using diverse methodological strategies. Samples from patient and healthy control RNASeq sequencing of brain tissue from post-mortem patients (GEO: GSE137619) were used. After an evaluation and quality control of these data, they had their transcripts mapped and quantified against the reference transcriptome GRCh38/hg38 of Homo sapiens using three strategies to identify differentially expressed genes in progressive MS patients. Functional analysis of genes revealed their involvement in immune processes, cell adhesion and migration, hormonal actions, amino acid transport, chemokines, metals, and signaling pathways. Our findings can offer valuable insights for progressive MS therapies, suggesting specific genes influence immune cell recruitment and potential ChP microenvironment changes. Combining complementary approaches maximizes literature coverage, facilitating a deeper understanding of the biological context in progressive MS.

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来源期刊
Neuroinformatics
Neuroinformatics 医学-计算机:跨学科应用
CiteScore
6.00
自引率
6.70%
发文量
54
审稿时长
3 months
期刊介绍: Neuroinformatics publishes original articles and reviews with an emphasis on data structure and software tools related to analysis, modeling, integration, and sharing in all areas of neuroscience research. The editors particularly invite contributions on: (1) Theory and methodology, including discussions on ontologies, modeling approaches, database design, and meta-analyses; (2) Descriptions of developed databases and software tools, and of the methods for their distribution; (3) Relevant experimental results, such as reports accompanie by the release of massive data sets; (4) Computational simulations of models integrating and organizing complex data; and (5) Neuroengineering approaches, including hardware, robotics, and information theory studies.
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