Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study
Yunli Ren,1,* Tianqi Wu,2,* Weiwei Shi3,4 1Department of Rheumatology and Immunology, Affiliated Hospital 2 of Nantong University, Nantong, People’s Republic of China; 2School of Medicine, Nantong University, Nantong, People’s Republic of China; 3Department of Dermatology, Af...
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Dove Medical Press
2025-08-01
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| author | Ren Y Wu T Shi W |
| author_facet | Ren Y Wu T Shi W |
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| description | Yunli Ren,1,&ast; Tianqi Wu,2,&ast; Weiwei Shi3,4 1Department of Rheumatology and Immunology, Affiliated Hospital 2 of Nantong University, Nantong, People’s Republic of China; 2School of Medicine, Nantong University, Nantong, People’s Republic of China; 3Department of Dermatology, Affiliated Hospital 2 of Nantong University, Nantong, People’s Republic of China; 4Department of Dermatology, The Third Affiliated Hospital of Soochow University, Changzhou, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Weiwei Shi, Department of Dermatology, Affiliated Hospital 2 of Nantong University, No. 666,Shengli Road, Nantong, 226000, People’s Republic of China, Email youzhi_gg@126.comObjective: To comprehensively characterize clinical features, diagnostic challenges, and prognostic biomarkers of anti-MDA5 antibody-positive dermatomyositis (MDA5-DM), incorporating transcriptomic analysis to elucidate underlying molecular mechanisms.Methods: We conducted a retrospective analysis of 29 MDA5-DM patients, collecting detailed clinical and laboratory data. Prognostic factors were identified using LASSO regression, validated by Cox proportional hazards and Kaplan-Meier survival analyses. Public transcriptomic dataset (GSE143323) was analyzed to identify differentially expressed genes and enriched immune pathways.Results: Patients exhibited a high misdiagnosis rate (62.1%) and prevalent interstitial lung disease (96.6%), with 41.4% developing rapidly progressive ILD (RP-ILD). Serum KL-6 level emerged as an independent predictor of mortality (HR=2.96, p< 0.01). Transcriptomic profiling revealed upregulation of IL-17, Toll-like receptor, and cytokine–receptor interaction pathways.Conclusion: MDA5-DM presents formidable diagnostic challenges with high misdiagnosis rates and substantial mortality risk predominantly driven by RP-ILD. Serum KL-6 represents a robust, clinically applicable prognostic biomarker warranting integration into risk stratification protocols. Transcriptomic findings illuminate critical immune-inflammatory cascades, particularly cytokine networks and IL-17 signaling, offering mechanistic insights and potential therapeutic targets. Future multicenter prospective studies are essential to validate these biomarker findings and develop composite prognostic models incorporating clinical, radiographic, and molecular parameters.Keywords: Anti-MDA5 dermatomyositis, rapidly progressive interstitial lung disease, prognostic biomarkers, KL-6, transcriptomics, immunopathogenesis |
| format | Article |
| id | doaj-art-c0dbb124ff5a44ea81131faff1b07715 |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-08-01 |
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| series | Clinical, Cosmetic and Investigational Dermatology |
| spelling | doaj-art-c0dbb124ff5a44ea81131faff1b077152025-08-20T04:02:27ZengDove Medical PressClinical, Cosmetic and Investigational Dermatology1178-70152025-08-01Volume 18Issue 119171929105628Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic StudyRen Y0Wu T1Shi W2Department of Rheumatology and ImmunologySchool of MedicineDepartment of DermatologyYunli Ren,1,&ast; Tianqi Wu,2,&ast; Weiwei Shi3,4 1Department of Rheumatology and Immunology, Affiliated Hospital 2 of Nantong University, Nantong, People’s Republic of China; 2School of Medicine, Nantong University, Nantong, People’s Republic of China; 3Department of Dermatology, Affiliated Hospital 2 of Nantong University, Nantong, People’s Republic of China; 4Department of Dermatology, The Third Affiliated Hospital of Soochow University, Changzhou, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Weiwei Shi, Department of Dermatology, Affiliated Hospital 2 of Nantong University, No. 666,Shengli Road, Nantong, 226000, People’s Republic of China, Email youzhi_gg@126.comObjective: To comprehensively characterize clinical features, diagnostic challenges, and prognostic biomarkers of anti-MDA5 antibody-positive dermatomyositis (MDA5-DM), incorporating transcriptomic analysis to elucidate underlying molecular mechanisms.Methods: We conducted a retrospective analysis of 29 MDA5-DM patients, collecting detailed clinical and laboratory data. Prognostic factors were identified using LASSO regression, validated by Cox proportional hazards and Kaplan-Meier survival analyses. Public transcriptomic dataset (GSE143323) was analyzed to identify differentially expressed genes and enriched immune pathways.Results: Patients exhibited a high misdiagnosis rate (62.1%) and prevalent interstitial lung disease (96.6%), with 41.4% developing rapidly progressive ILD (RP-ILD). Serum KL-6 level emerged as an independent predictor of mortality (HR=2.96, p< 0.01). Transcriptomic profiling revealed upregulation of IL-17, Toll-like receptor, and cytokine–receptor interaction pathways.Conclusion: MDA5-DM presents formidable diagnostic challenges with high misdiagnosis rates and substantial mortality risk predominantly driven by RP-ILD. Serum KL-6 represents a robust, clinically applicable prognostic biomarker warranting integration into risk stratification protocols. Transcriptomic findings illuminate critical immune-inflammatory cascades, particularly cytokine networks and IL-17 signaling, offering mechanistic insights and potential therapeutic targets. Future multicenter prospective studies are essential to validate these biomarker findings and develop composite prognostic models incorporating clinical, radiographic, and molecular parameters.Keywords: Anti-MDA5 dermatomyositis, rapidly progressive interstitial lung disease, prognostic biomarkers, KL-6, transcriptomics, immunopathogenesishttps://www.dovepress.com/clinical-and-molecular-insights-into-anti-mda5-antibody-positive-derma-peer-reviewed-fulltext-article-CCIDAnti-MDA5 DermatomyositisRapidly Progressive Interstitial Lung DiseasePrognostic BiomarkersKL-6TranscriptomicsImmunopathogenesis |
| spellingShingle | Ren Y Wu T Shi W Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study Clinical, Cosmetic and Investigational Dermatology Anti-MDA5 Dermatomyositis Rapidly Progressive Interstitial Lung Disease Prognostic Biomarkers KL-6 Transcriptomics Immunopathogenesis |
| title | Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study |
| title_full | Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study |
| title_fullStr | Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study |
| title_full_unstemmed | Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study |
| title_short | Clinical and Molecular Insights Into Anti-MDA5 Antibody-Positive Dermatomyositis: A Single-Center Retrospective and Transcriptomic Study |
| title_sort | clinical and molecular insights into anti mda5 antibody positive dermatomyositis a single center retrospective and transcriptomic study |
| topic | Anti-MDA5 Dermatomyositis Rapidly Progressive Interstitial Lung Disease Prognostic Biomarkers KL-6 Transcriptomics Immunopathogenesis |
| url | https://www.dovepress.com/clinical-and-molecular-insights-into-anti-mda5-antibody-positive-derma-peer-reviewed-fulltext-article-CCID |
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