Gene expression profiling in pure neural leprosy: insights into pathogenesis and diagnostic biomarkers.

IF 5.7 2区医学 Q1 IMMUNOLOGY

Frontiers in Immunology Pub Date : 2025-05-12 eCollection Date: 2025-01-01 DOI:10.3389/fimmu.2025.1550687

Mariana Martins de Athaide, Thyago Leal-Calvo, Tatiana Pereira Da Silva, Thabatta Leal Silveira Andrezo Rosa, Helen Ferreira, Bernardo Miguel de Oliveira Pascarelli, Ana Caroline Siquara de Sousa, Marcia Rodrigues Jardim, Roberta Olmo Pinheiro

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引用次数: 0

Abstract

Introduction: Leprosy may affect skin and nerves, leading to permanent disabilities and deformities. Pure neural leprosy (PNL) lacks skin lesions, complicating diagnosis. Moreover there is no a specific treatment to control neural damage. Transcriptomic profiling may reveals unique gene expression changes in PNL nerves, shedding light on immune response and pathogenesis. These findings may guide early diagnosis and improve patient outcome.

Methods: In the present study, we investigated the gene profiling of nerve samples from patients with PNL and revealed significant transcriptomic alterations compared to non-leprosy controls.

Results: Principal Component Analysis (PCA) of the 500 most differentially expressed genes separated the groups, with 1,199 genes showing differential expression (|log₂FC| ≥ 1, FDR ≤ 0.1). Downregulated genes included GAS2L2, TRIM67, IL1RAPL1, MAP1LC3B2, and NTNG1, implicated in neuronal development and autophagy, while upregulated genes were linked to immune responses. Functional analyses highlighted inflammasome activation and autophagy impairment in PNL, correlating with nerve inflammation and architecture loss.

Discussion: We hope that our data will aid in identifying new markers, fostering strategies for early diagnosis, preventing disabilities, and improving the management of PNL patients.

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纯神经性麻风病的基因表达谱：发病机制和诊断生物标志物的见解。

简介：麻风病可能影响皮肤和神经，导致永久性残疾和畸形。纯神经性麻风病（PNL）缺乏皮肤病变，使诊断复杂化。此外，目前还没有一种特殊的治疗方法来控制神经损伤。转录组学分析可能揭示PNL神经中独特的基因表达变化，揭示免疫反应和发病机制。这些发现可能指导早期诊断和改善患者预后。方法：在本研究中，我们研究了来自PNL患者的神经样本的基因谱，并揭示了与非麻风病对照相比显著的转录组改变。结果：用主成分分析（PCA）对500个差异表达最多的基因进行分组，有1199个基因存在差异表达（|log2FC|≥1,FDR≤0.1）。下调的基因包括GAS2L2、TRIM67、IL1RAPL1、MAP1LC3B2和NTNG1，这些基因与神经元发育和自噬有关，而上调的基因与免疫反应有关。功能分析强调PNL的炎性体激活和自噬损伤，与神经炎症和结构损失相关。讨论：我们希望我们的数据将有助于识别新的标记物，促进早期诊断策略，预防残疾，并改善PNL患者的管理。

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

Frontiers in Immunology IMMUNOLOGY-

CiteScore

9.80

自引率

11.00%

发文量

7153

审稿时长

14 weeks

期刊介绍： Frontiers in Immunology is a leading journal in its field, publishing rigorously peer-reviewed research across basic, translational and clinical immunology. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Immunology is the official Journal of the International Union of Immunological Societies (IUIS). Encompassing the entire field of Immunology, this journal welcomes papers that investigate basic mechanisms of immune system development and function, with a particular emphasis given to the description of the clinical and immunological phenotype of human immune disorders, and on the definition of their molecular basis.