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Molecular Perspective in Autoimmune Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Immunology".

Deadline for manuscript submissions: 20 October 2025 | Viewed by 1431

Special Issue Editors


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Guest Editor
Internal Service, Hospital Universitario Ramón y Cajal, Irycis, 28034 Madrid, Spain
Interests: systemic lupus erythematosus; autoimmune disease; autoinflammatory disease; Castleman’s disease; vasculitis; IgG4RD
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Dermatology Service, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria, Carretera de Colmenar Km 9, 28034 Madrid, Spain
Interests: dermatology; photodermatology; complex skin diseases; phototherapy; photodynamic therapy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, research into autoimmune and autoinflammatory diseases has increasingly focused on uncovering the molecular mechanisms that drive these complex diseases. Despite significant progress, many of the genetic and molecular factors involved remain elusive. This Special Issue, titled “Molecular Perspective in Autoimmune Diseases”, will highlight cutting-edge research that advances our understanding of the molecular bases of autoimmune diseases.

We invite submissions that explore a range of topics, including the following:

  • Genetic variation: Detailed studies of SNPs, CNVs, and mutations associated with autoimmune and autoinflammatory diseases;
  • Interferon pathway in several diseases such as systemic lupus erythematosus, systemic sclerosis, Sjögren syndrome, and other inflammatory diseases;
  • Functional Mechanisms: Investigating the molecular pathways and mechanisms involved in autoimmune pathogenesis;
  • Role of cytokines and their link with more uncommon systemic and hyperinflammatory states like hemophagocytic lymphohistiocytosis, idiopathic multicentric Castleman’s disease, catastrophic antiphospholipid syndrome, etc.;
  • Novel developments in inflammatory diseases and other human inborn errors of immunity.

Both original research articles and reviews are welcome if they provide a comprehensive perspective on these molecular findings and their implications for advancing the diagnosis and treatment of autoimmune diseases.

We look forward to receiving your valuable submissions.

Dr. Andrés González-García
Dr. Montserrat Fernández-Guarino
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • interferon
  • cytokines
  • lupus nephritis
  • lupus
  • type I interferon
  • vasculitis
  • IgG4-related disease
  • B cell
  • NETs
  • IL-6
  • biomarkers

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Published Papers (2 papers)

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Research

17 pages, 2895 KiB  
Article
Salivary Proteome Profile of Xerostomic Patients Reveals Pathway Dysregulation Related to Neurodegenerative Diseases: A Pilot Study
by Abhijeet A. Henry, Micaela F. Beckman, Thomas S. Fry, Michael T. Brennan, Farah Bahrani Mougeot and Jean-Luc C. Mougeot
Int. J. Mol. Sci. 2025, 26(15), 7037; https://doi.org/10.3390/ijms26157037 - 22 Jul 2025
Viewed by 222
Abstract
Xerostomia, the subjective complaint of a dry mouth, is frequently associated with salivary flow reduction and/or salivary gland hypofunction. This condition significantly impacts an individual’s quality of life and oral health, including difficulties in speaking, chewing, and swallowing. Xerostomia may be caused by [...] Read more.
Xerostomia, the subjective complaint of a dry mouth, is frequently associated with salivary flow reduction and/or salivary gland hypofunction. This condition significantly impacts an individual’s quality of life and oral health, including difficulties in speaking, chewing, and swallowing. Xerostomia may be caused by autoimmune diseases, xerogenic medications, and radiation therapy. Our objective was to identify differentially expressed proteins in the saliva of patients with medication and autoimmune disease-associated xerostomia compared to non-xerostomic control subjects. Two groups of individuals (N = 45 total) were recruited: non-xerostomic subjects (NX-group; n = 18) and xerostomic patients (XP-group; n = 27). Dried saliva spot samples were collected from major salivary glands, i.e., parotid (left and right) and submandibular glands. Proteomic analysis was performed by deep nanoLC-MS/MS. Differential protein expression in the XP-group relative to the NX-group was determined by the Mann–Whitney U-test with FDR Benjamini–Hochberg correction (padj < 0.05). The Search Tool for Recurring Instances of Neighboring Genes (STRINGv12.0) was used to generate interaction networks and perform pathway analysis. A total of 1407 proteins were detected. Of these, 86 from the left parotid gland, 112 from the right parotid gland, and 73 from the submandibular gland were differentially expressed proteins (DEPs). Using STRING analysis, we identified, for the first time, several neurodegenerative disease-associated networks, primarily involving the downregulation of the 20S proteasome core complex and glyoxalase proteins across salivary glands. In this study, we determined neuronal dysregulation and impaired methylglyoxal (MGO) detoxification, possibly through reduced protein expression of glyoxalase Parkinson’s Disease (PD) Protein 7 (encoded by the PARK7 gene) in major salivary glands of xerostomic patients. Indeed, impaired MGO detoxification has been previously shown to cause salivary gland dysfunction in a mouse model of type 2 diabetes. Based on other DEPs associated with neurodegenerative disorders, our results also suggest a possible deficiency in the parasympathetic nervous system innervation of salivary glands, warranting further investigation. Full article
(This article belongs to the Special Issue Molecular Perspective in Autoimmune Diseases)
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17 pages, 3034 KiB  
Article
Topical miRNA Delivery via Elastic Liposomal Formulation: A Promising Genetic Therapy for Cutaneous Lupus Erythematosus (CLE)
by Blanca Joseph-Mullol, Maria Royo, Veronique Preat, Teresa Moliné, Berta Ferrer, Gloria Aparicio, Josefina Cortés-Hernández and Cristina Solé
Int. J. Mol. Sci. 2025, 26(6), 2641; https://doi.org/10.3390/ijms26062641 - 14 Mar 2025
Viewed by 838
Abstract
Cutaneous lupus erythematosus (CLE) is a chronic autoimmune skin disorder with limited therapeutic options, particularly for refractory discoid lupus (DLE), which often results in scarring and atrophy. Recent studies have identified miR-31, miR-485-3p, and miR-885-5p as key regulators of inflammation, apoptosis, and fibrosis [...] Read more.
Cutaneous lupus erythematosus (CLE) is a chronic autoimmune skin disorder with limited therapeutic options, particularly for refractory discoid lupus (DLE), which often results in scarring and atrophy. Recent studies have identified miR-31, miR-485-3p, and miR-885-5p as key regulators of inflammation, apoptosis, and fibrosis in CLE skin lesions. This research investigates a novel topical miRNA therapy using DDC642 elastic liposomes to target these pathways in CLE. DDC642 liposomes were complexed with miRNAs (anti-miR-31, anti-miR-485-3p, pre-miR-885-5p) and characterized through dynamic light scattering and Cryo-TEM. Cytotoxicity, cellular penetration, and therapeutic efficacy were evaluated in primary keratinocytes, PBMCs, and immune 3D-skin organoids. miRNA lipoplexes were successfully synthesized with optimized particle size, surface charge, and encapsulation efficiency. These lipoplexes exhibited effective cellular penetration and low cytotoxicity. Anti-miR-31 lipoplexes reduced miR-31 and NF-κB levels while increasing STK40 and PPP6C expression. Pre-miR-885-5p lipoplexes elevated miR-885-5p levels and downregulated PSMB5 and NF-κB in keratinocytes. While anti-miR-485-3p lipoplexes reduced T-cell activation markers. Anti-miR-31 and pre-miR-885-5p lipoplexes successfully modulated inflammatory pathways in 3D-skin CLE models. miRNA lipoplexes represent promising candidates for pioneering topical genetic therapies for CLE. Further studies, including animal models, are necessary to validate and optimize these findings. Full article
(This article belongs to the Special Issue Molecular Perspective in Autoimmune Diseases)
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