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Advances in Molecular Research on Autoimmune Diseases, 2nd Edition

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 June 2025 | Viewed by 5731

Special Issue Editor


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Guest Editor
1. Department of Neurology, Juntendo University, Tokyo 1138421, Japan
2. Department of Biomedical Sciences, University of Sassari, 07100 Sassari, Italy
Interests: experimental autoimmune encephalomyelitis; multiple sclerosis; autoimmunity; neuroimmunology; microbiology; neurodegeneration; astrocytes; mycobacteria; BCG
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Special Issue Information

Dear Colleagues,

Autoimmune diseases are a group of disorders characterized by the immune system mistakenly attacking healthy cells and tissues in the body. These conditions can affect various organs, including the central and peripheral nervous systems, leading to significant morbidity and an impaired quality of life.

Understanding the role of genetic predisposition, environmental triggers and dysregulated immune responses has provided valuable insights into the development of autoimmune diseases. Genetic studies have highlighted numerous susceptibility genes, emphasizing the intricate interplay between genetic factors and environmental influences.

Efforts have been directed toward unraveling the immunological pathways involved in autoimmune diseases. Technological advances and the use of animal models have allowed for the identification of specific immune cells as key players in disease pathogenesis. Additionally, the discovery of autoantibodies and their targeting of self-antigens has provided important diagnostic and prognostic markers for several autoimmune disorders.

Novel therapeutic approaches have emerged aiming to modulate or suppress the aberrant immune responses seen in autoimmune diseases. Immune-modulating drugs, biologics and cell-based therapies have shown promising results in managing these conditions.

This Special Issue welcomes contributions that focus on recent advances in autoimmune disease research, with the aim of shedding light on the underlying mechanisms of these complex disorders and exploring potential therapeutic strategies.

Dr. Davide Cossu
Guest Editor

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Keywords

  • autoimmune markers
  • immunology
  • pathogenesis
  • immunogenetics
  • animal models
  • immunotherapy

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Related Special Issue

Published Papers (4 papers)

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Research

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8 pages, 448 KiB  
Communication
Hepatitis E Virus Infection in Patients with Systemic and Cutaneous Lupus Erythematosus
by Fulvia Ceccarelli, Maria Dorrucci, Carmelo Pirone, Elida Mataj, Cristina Garufi, Francesca Farchi, Roberto Bruni, Umbertina Villano, Elisabetta Madonna, Giancarlo Iaiani, Massimo Ciccozzi, Anna Rita Ciccaglione, Fabrizio Conti and Alessandra Lo Presti
Int. J. Mol. Sci. 2024, 25(20), 11162; https://doi.org/10.3390/ijms252011162 - 17 Oct 2024
Cited by 1 | Viewed by 949
Abstract
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by a multifactorial etiology in which genetic and environmental factors interplay. An exclusively cutaneous condition has been described and defined as cutaneous lupus erythematosus (CLE). In Italy, a nationwide blood donor survey found [...] Read more.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by a multifactorial etiology in which genetic and environmental factors interplay. An exclusively cutaneous condition has been described and defined as cutaneous lupus erythematosus (CLE). In Italy, a nationwide blood donor survey found an overall HEV prevalence of 8.7%, with an interregional variation from 2.2% to 22.8%. In this study, we aimed to estimate HEV seroprevalence in a cohort of patients affected by SLE and CLE attending the Lupus Clinic, Sapienza University of Rome. Serum samples were tested for anti-HEV immunoglobulin Ig G and M antibodies using commercial enzyme-linked immunosorbent assay (ELISA) kits. Statistical analysis was performed. In total, 138 patients were enrolled, 92 (67%) affected by SLE and 46 by CLE. The prevalence of HEV infection was 23.9% in the CLE group and 7.6% in the SLE group. The anti-HEV+ prevalence was significantly more frequent in CLE. Some mechanisms may be linked to increased susceptibility to HEV such as a molecular mimicry associated with the CLE condition or with the skin compartment/skin self-antigens, as well as the involvement of the genetic background. Regarding the possible risk factors, no association was found, although, of note, the odds of HEV+ relative to contact with animals and to eating raw seafood were strongly higher than the unit in the CLE group. Full article
(This article belongs to the Special Issue Advances in Molecular Research on Autoimmune Diseases, 2nd Edition)
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14 pages, 3148 KiB  
Article
Impact of Epstein–Barr Virus Nuclear Antigen 1 on Neuroinflammation in PARK2 Knockout Mice
by Davide Cossu, Yuji Tomizawa, Sachiko Noda, Eiichi Momotani, Tamami Sakanishi, Hanna Okada, Kazumasa Yokoyama, Leonardo Antonio Sechi and Nobutaka Hattori
Int. J. Mol. Sci. 2024, 25(19), 10697; https://doi.org/10.3390/ijms251910697 - 4 Oct 2024
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Abstract
This study aimed to explore the intricate relationship between mitochondrial dysfunction, infection, and neuroinflammation, focusing specifically on the impact of pathogenic epitopes of the Epstein–Barr Virus (EBV) nuclear antigen 1 (EBNA1) in a mouse model of mitochondrial dysfunctions. The investigation included female middle-aged [...] Read more.
This study aimed to explore the intricate relationship between mitochondrial dysfunction, infection, and neuroinflammation, focusing specifically on the impact of pathogenic epitopes of the Epstein–Barr Virus (EBV) nuclear antigen 1 (EBNA1) in a mouse model of mitochondrial dysfunctions. The investigation included female middle-aged PARK2−/− and C57BL/6J wild-type mice immunized with EBNA1386–405 or with active experimental autoimmune encephalomyelitis (EAE) induction by the myelin oligodendrocyte glycoprotein (MOG)35–55 peptide. The PARK2−/− mice developed more severe EAE than the wild-type mice. Following immunization with EBNA1386–405, only PARK2−/− exhibited symptoms resembling EAE. During the acute phase, PARK2−/− mice immunized with either MOG35–55 or EBNA1386–405 exhibited a similar infiltration of the T cells and macrophages in the spinal cord and decreased glial fibrillary acidic protein (GFAP) expression in the brain. However, the EBNA1386–405 -immunized PARK2−/− mice showed significantly increased frequencies of CD8a+ T cells and CD11c+ B cells, and distinct cytokine profiles in the periphery compared to the wild-type controls. These findings highlight the role of EBV in exacerbating inflammation, particularly in the context of mitochondrial deficiencies. Full article
(This article belongs to the Special Issue Advances in Molecular Research on Autoimmune Diseases, 2nd Edition)
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12 pages, 2828 KiB  
Article
NRF2 Plays a Crucial Role in the Tolerogenic Effect of Ethyl Pyruvate on Dendritic Cells
by Suzana Stanisavljević, Goran Stegnjaić, Bojan Jevtić, Mirjana Dimitrijević, Đorđe Miljković, Irena Lavrnja and Neda Nikolovski
Int. J. Mol. Sci. 2024, 25(11), 6195; https://doi.org/10.3390/ijms25116195 - 4 Jun 2024
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Abstract
Ethyl pyruvate (EP) is a redox-active compound that has been previously shown to be effective in restraining immune hyperactivity in animal models of various autoimmune and chronic inflammatory diseases. Importantly, EP has also been proven to have a potent tolerogenic effect on dendritic [...] Read more.
Ethyl pyruvate (EP) is a redox-active compound that has been previously shown to be effective in restraining immune hyperactivity in animal models of various autoimmune and chronic inflammatory diseases. Importantly, EP has also been proven to have a potent tolerogenic effect on dendritic cells (DCs). Here, the influence of EP on the signaling pathways in DCs relevant for their tolerogenicity, including anti-inflammatory NRF2 and pro-inflammatory NF-κB, was explored. Specifically, the effects of EP on DCs obtained by GM-CSF-directed differentiation of murine bone marrow precursor cells and matured under the influence of lipopolysaccharide (LPS) were examined via immunocytochemistry and RT-PCR. EP counteracted LPS-imposed morphological changes and down-regulated the LPS-induced expression of pro-inflammatory mediators in DCs. While it reduced the activation of NF-κB, EP potentiated NRF2 and downstream antioxidative molecules, thus implying the regulation of NRF2 signaling pathways as the major reason for the tolerizing effects of EP on DCs. Full article
(This article belongs to the Special Issue Advances in Molecular Research on Autoimmune Diseases, 2nd Edition)
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Review

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16 pages, 1171 KiB  
Review
GPBP or CERT: The Roles in Autoimmunity, Cancer or Neurodegenerative Disease—A Systematic Review
by Paula Vivó, José Miguel Hernández-Andreu, Jesús Ángel Prieto-Ruíz and Ignacio Ventura
Int. J. Mol. Sci. 2024, 25(23), 13179; https://doi.org/10.3390/ijms252313179 - 7 Dec 2024
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Abstract
In 1999, Goodpasture antigen-binding protein (GPBP) was identified as a protein interacting with the N-terminal region of the human Goodpasture antigen, linked to collagen IV in patients with Goodpasture syndrome, an autoimmune disease. In 2003, a splice variant lacking a serine-rich domain was [...] Read more.
In 1999, Goodpasture antigen-binding protein (GPBP) was identified as a protein interacting with the N-terminal region of the human Goodpasture antigen, linked to collagen IV in patients with Goodpasture syndrome, an autoimmune disease. In 2003, a splice variant lacking a serine-rich domain was discovered, which is involved in the cytosolic transport of ceramide, leading to its renaming as Ceramide Transfer Protein (CERT). This dual functionality has sparked debate regarding the roles of GPBP/CERT, as they appear to participate in distinct research fields and are implicated in various pathologies. This review follows the guidelines of the Preferred Reporting Items for Systematic Reviews (PRISMA). It compiles data from searches on Medline (PubMed) and Web of Science conducted between February and November 2022. Out of 465 records, 47 publications were selected for review. The literature predominantly focuses on GPBP/CERT as ceramide transporters. Notably, no studies contradict either hypothesis, with substantial scientific evidence supporting both roles. The need for further research is clear, and new insights into these proteins’ involvement in multiple pathologies could drive future therapeutic strategies. GPBP and CERT are multifunctional proteins with roles beyond collagen organization and ceramide transport, extending to autoimmune disorders, neurodegenerative diseases, and cancer. The ongoing controversy highlights the necessity for continued investigation, which promises to offer significant insights and potential therapeutic avenues. Full article
(This article belongs to the Special Issue Advances in Molecular Research on Autoimmune Diseases, 2nd Edition)
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