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Molecular Pathology and Genetics of Autoimmune Diseases

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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: closed (31 October 2023) | Viewed by 15553

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Special Issue Editor

Prof. Dr. George N. Goulielmos

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Guest Editor

Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, University of Crete, 71003 Heraklion, Crete, Greece
Interests: genetics and genomics of autoinflammatory and autoimmune diseases; genetics of endometriosis; genetics of hematological and gynecological diseases; NGS for the study of complex diseases

Special Issue Information

Dear Colleagues,

This Special Issue of the International Journal of Molecular Sciences (IJMS) aims to enable rapid publication of contributions on all aspects of molecular pathology and genetics of autoimmune diseases, ranging from basic and translational research at the molecular level, to pathogenetic mechanisms and clinical applications. We welcome studies on molecular mechanisms, diagnostics, and therapeutics of human autoimmune diseases and relevant experimental models using genetic, epigenetic, cellular, molecular, biological, chemical, bioinformatics and immunological approaches. Topics include, but are not limited to:

The molecular and cellular mechanism of autoimmune diseases;
Immunopathology and autoimmune diseases;
Mechanisms of immunotoxicity;
Gene association studies in autoimmune diseases;
Translational research in autoimmune diseases;
Genetic and epigenetic studies in autoimmune diseases;
Bioinformatics applications as an early diagnostic tool for autoimmune diseases;
In vitro and in vivo aspects of inflammation and autoimmunity;
Comorbidities associated with autoimmune diseases;
Molecular diagnostics;
Molecular targeted therapy;
Functional approaches in the pathogenesis of autoimmune diseases;
Novel mechanisms of autoimmune disease.

We also welcome reviews on these subjects, particularly those that challenge existing concepts.

Prof. Dr. George N. Goulielmos
Guest Editor

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

autoimmune diseases
gene polymorphisms
three dimensional moles (3D models)
Systemic Lupus Erythematosus
rheumatoid arthritis
Ankylosing Spondylitis
immunomodulators
B and T-cell
infectious diseases
inflammation
immunotoxicity
pharmacogenomics
gene therapy

Published Papers (3 papers)

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Research

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14 pages, 2917 KiB

Open AccessArticle

Hepatocyte DAX1 Deletion Exacerbates Inflammatory Liver Injury by Inducing the Recruitment of CD4⁺ and CD8⁺ T Cells through NF-κB p65 Signaling Pathway in Mice

by Hyo-Jeong Yun, Young-Joo Suh, Yu-Bin Kim, Eun-Jung Kang, Jung Hyeon Choi, Young-Keun Choi, In-Bok Lee, Dong-Hee Choi, Yun Jeong Seo, Jung-Ran Noh, Hueng-Sik Choi, Yong-Hoon Kim and Chul-Ho Lee

Int. J. Mol. Sci. 2022, 23(22), 14009; https://doi.org/10.3390/ijms232214009 - 13 Nov 2022

Cited by 2 | Viewed by 1591

Abstract

Fulminant hepatitis is characterized by rapid and massive immune-mediated liver injury. Dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1; NR0B1) represses the transcription of various genes. Here, we determine whether DAX1 serves as a regulator of inflammatory liver injury induced by concanavalin A (ConA). C57BL/6J (WT), myeloid cell-specific Dax1 knockout (MKO), and hepatocyte-specific Dax1 knockout (LKO) mice received single intravenous administration of ConA. Histopathological changes in liver and plasma alanine aminotransferase and aspartate aminotransferase levels in Dax1 MKO mice were comparable with those in WT mice following ConA administration. Unlike Dax1 MKO mice, Dax1 LKO mice were greatly susceptible to ConA-induced liver injury, which was accompanied by enhanced infiltration of immune cells, particularly CD4⁺ and CD8⁺ T cells, in the liver. Factors related to T-cell recruitment, including chemokines and adhesion molecules, significantly increased following enhanced and prolonged phosphorylation of NF-κB p65 in the liver of ConA-administered Dax1 LKO mice. This is the first study to demonstrate that hepatocyte-specific DAX1 deficiency exacerbates inflammatory liver injury via NF-κB p65 activation, thereby causing T-cell infiltration by modulating inflammatory chemokines and adhesion molecules. Our results suggest DAX1 as a therapeutic target for fulminant hepatitis treatment. Full article

(This article belongs to the Special Issue Molecular Pathology and Genetics of Autoimmune Diseases)

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Review

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35 pages, 1553 KiB

Open AccessReview

Pharmaco-Omics in Psoriasis: Paving the Way towards Personalized Medicine

by Charalabos Antonatos, Paschalia Asmenoudi, Mariza Panoutsopoulou and Yiannis Vasilopoulos

Int. J. Mol. Sci. 2023, 24(8), 7090; https://doi.org/10.3390/ijms24087090 - 11 Apr 2023

Cited by 4 | Viewed by 11662

Abstract

The emergence of high-throughput approaches has had a profound impact on personalized medicine, evolving the identification of inheritable variation to trajectory analyses of transient states and paving the way for the unveiling of response biomarkers. The utilization of the multi-layered pharmaco-omics data, including genomics, transcriptomics, proteomics, and relevant biological information, has facilitated the identification of key molecular biomarkers that can predict the response to therapy, thereby optimizing treatment regiments and providing the framework for a tailored treatment plan. Despite the availability of multiple therapeutic options for chronic diseases, the highly heterogeneous clinical response hinders the alleviation of disease signals and exacerbates the annual burden and cost of hospitalization and drug regimens. This review aimed to examine the current state of the pharmaco-omic approaches performed in psoriasis, a common inflammatory disease of the skin. We sought to identify central studies that investigate the inter-individual variability and explore the underlying molecular mechanisms of drug response progression via biological profiling in psoriatic patients administered with the extended therapeutic armamentarium of psoriasis, incorporating conventional therapies, small molecules, as well as biological drugs that inhibit central pathogenic cytokines involved in the disease pathogenesis. Full article

(This article belongs to the Special Issue Molecular Pathology and Genetics of Autoimmune Diseases)

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12 pages, 748 KiB

Open AccessReview

miRNA-Mediated Epigenetic Regulation of Treatment Response in RA Patients—A Systematic Review

by Arkaitz Mucientes, Jose Manuel Lisbona, Natalia Mena-Vázquez, Patricia Ruiz-Limón, Sara Manrique-Arija and Antonio Fernández-Nebro

Int. J. Mol. Sci. 2022, 23(21), 12989; https://doi.org/10.3390/ijms232112989 - 27 Oct 2022

Cited by 3 | Viewed by 1752

Abstract

This study aimed to evaluate the role of microRNAs (miRNA) as biomarkers of treatment response in rheumatoid arthritis (RA) patients through a systematic review of the literature. The MEDLINE and Embase databases were searched for studies including RA-diagnosed patients treated with disease-modifying antirheumatic drugs (DMARDs) that identify miRNAs as response predictors. Review inclusion criteria were met by 10 studies. The main outcome of the study was the response to treatment, defined according to EULAR criteria. A total of 839 RA patients and 67 healthy donors were included in the selected studies. RA patients presented seropositivity for the rheumatoid factor of 74.7% and anti-citrullinated C-peptide antibodies of 63.6%. After revision, 15 miRNAs were described as treatment response biomarkers for methotrexate, anti-tumour necrosis factor (TNF), and rituximab. Among treatments, methotrexate presented the highest number of predictor miRNAs: miR-16, miR-22, miR-132, miR-146a and miR-155. The most polyvalent miRNAs were miR-146a, predicting response to methotrexate and anti-TNF, and miR-125b, which predicts response to infliximab and rituximab. Our data support the role of miRNAs as biomarkers of treatment response in RA and point to DMARDs modifying the miRNAs expression. Nevertheless, further studies are needed since a meta-analysis that allows definitive conclusions is not possible due to the lack of studies in this field. Full article

(This article belongs to the Special Issue Molecular Pathology and Genetics of Autoimmune Diseases)

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