ORIGINAL RESEARCH article
Front. Immunol.
Sec. Inflammation
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1550687
This article is part of the Research TopicEnhancing Leprosy Diagnosis: New Tools and Approaches for Global Health ImpactView all 4 articles
Gene Expression Profiling in Pure Neural Leprosy: insights into Pathogenesis and Diagnostic Biomarkers
Provisionally accepted
Mariana Martins De Athaide1
Thyago Leal-Calvo2
Tatiana Pereira Da Silva1
Thabatta Leal Silveira Andrezo Rosa3
Helen Ferreira1
Bernardo Pascarelli1
Ana Caroline Siquara de Sousa1
Marcia Rodrigues Jardim1,4
Roberta Olmo Pinheiro1,5*- 1Laboratory of Leprosy, Oswaldo Cruz Institute, Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro, Brazil
- 2D'Or Institute for Research and Education (IDOR), Rio de Janeiro, Rio de Janeiro, Brazil
- 3Laboratory of Cellular Microbiology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, Rio de Janeiro, Brazil
- 4Pedro Ernesto University Hospital, Rio de Janeiro State University, Rio de Janeiro, Paraná, Brazil
- 5Oswaldo Cruz Institute, Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, Paraná, Brazil
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Leprosy may affect skin and nerves, leading to disability. Pure neural leprosy (PNL) lacks skin lesions, complicating diagnosis. Transcriptomic profiling reveals unique gene expression changes in PNL nerves, shedding light on immune response and pathogenesis. These findings may guide early diagnosis and improve patient outcomes. In the present study, gene profiling of nerve samples from patients with PNL revealed significant transcriptomic alterations compared to non-leprosy controls. 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. 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.
Keywords: pure neural leprosy, Transcriptomic Analysis, Inflammasomes, Autophagy, Immunopathogenesis
Received: 23 Dec 2024; Accepted: 16 Apr 2025.
Copyright: © 2025 Martins De Athaide, Leal-Calvo, Da Silva, Leal Silveira Andrezo Rosa, Ferreira, Pascarelli, Siquara de Sousa, Jardim and Pinheiro. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Roberta Olmo Pinheiro, Laboratory of Leprosy, Oswaldo Cruz Institute, Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro, Brazil
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