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Biomolecules
Special Issues
Genetic Advances and -Omic Approaches in Autoimmune/ Autoinflammatory Skin Diseases
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Genetic Advances and -Omic Approaches in Autoimmune/ Autoinflammatory Skin Diseases

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".

Deadline for manuscript submissions: closed (30 September 2022) | Viewed by 9758

Special Issue Editors

Prof. Dr. Angelo Valerio Marzano

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Guest Editor
1. Department of Pathophysiology and Transplantation, Università Degli Studi di Milano, Milan, Italy
2. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milan, Italy
Interests: neutrophilic dermatoses, including pyoderma gangrenosum, sweet syndrome, and amicrobial pustulosis of the folds; autoinflammatory skin diseases; hidradenitis suppurativa; autoimmune bullous dermatoses; connective tissue diseases; chronic urticaria; atopic dermatitis; psoriasis
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Sergio Crovella

E-Mail Website
Guest Editor
Department of Biological and Environmental Sciences, College of Arts and Sciences, University of Qatar, Doha 2713, Qatar
Interests: genetics and immunobiology of autoimmune and autoinflammatory skin disorders, such as hidradenitis suppurativa and pyoderma gangrenosum; genetics of infectious diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Chiara Moltrasio

E-Mail Website
Guest Editor
Dermatology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
Interests: clinical or molecular genetics and immunobiology of autoimmune and autoinflammatory skin disorders including, among others, hidradenitis suppurativa and pyoderma gangrenosum; genetics of infectious diseases; genodermatoses
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Studies in the last few decades using new -omic approaches such as Genome-Wide Association Studies (GWAS), Whole-Exome Sequencing (WES), and transcriptomics have allowed us to identify many causative genes which interact with epigenetic factors and contribute to the complex pathogenesis of several skin diseases. Next-generation sequencing (NGS), in combination with bioinformatics analysis, allows us to take a more comprehensive approach to unravelling the complex aetiology of cutaneous disorders.

Despite this, the pathophysiology of several autoimmune/autoinflammatory skin diseases has not been completely elucidated and a univocal genotype–phenotype correlation is still lacking.

The goal of this Special Issue is to inspire the community through an exploration of new approaches and perspectives regarding the mechanisms underlying autoimmune/autoinflammatory skin diseases and potential therapeutic targets for tailored medicine.

We encourage researchers in this field to contribute review articles on the pathophysiology of these diseases. We are also open to original papers that assess new or old biological signalling pathways using new methodologies.         

Prof. Dr. Angelo Valerio Marzano
Dr. Sergio Crovella
Prof. Dr. Chiara Moltrasio
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. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). 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

  • Skin disorders
  • Inflammation
  • Autoinflammation
  • Keratinization
  • Cytokine
  • Genetic variants
  • Differential gene expression
  • Next-Generation Sequencing
  • Signaling pathway
  • Therapeutic targets

Published Papers (3 papers)

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Research

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21 pages, 1406 KiB  
Article
Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
by Ana Sofia Lima Estevao de Oliveira, Giovanna Bloise, Chiara Moltrasio, Antonio Coelho, Almerinda Agrelli, Ronald Moura, Paola Maura Tricarico, Stéphane Jamain, Angelo Valerio Marzano, Sergio Crovella and Lucas André Cavalcanti Brandão
Biomolecules 2022, 12(10), 1371; https://doi.org/10.3390/biom12101371 - 25 Sep 2022
Cited by 12 | Viewed by 2898
Abstract
Hidradenitis suppurativa (HS) is an inflammatory skin condition clinically characterized by recurrent painful deep-seated nodules, abscesses, and sinus tracks in areas bearing apocrine glands, such as axillae, breasts, groins, and buttocks. Despite many recent advances, the pathophysiological landscape of HS still demands further [...] Read more.
Hidradenitis suppurativa (HS) is an inflammatory skin condition clinically characterized by recurrent painful deep-seated nodules, abscesses, and sinus tracks in areas bearing apocrine glands, such as axillae, breasts, groins, and buttocks. Despite many recent advances, the pathophysiological landscape of HS still demands further clarification. To elucidate HS pathogenesis, we performed a meta-analysis, set analysis, and a variant calling on selected RNA-Sequencing (RNA-Seq) studies on HS skin. Our findings corroborate the HS triad composed of upregulated inflammation, altered epithelial differentiation, and dysregulated metabolism signaling. Upregulation of specific genes, such as KRT6, KRT16, serpin-family genes, and SPRR3 confirms the early involvement of hair follicles and the impairment of barrier function in HS lesioned skin. In addition, our results suggest that adipokines could be regarded as biomarkers of HS and metabolic-related disorders. Finally, the RNA-Seq variant calling identified several mutations in HS patients, suggesting potential new HS-related genes associated with the sporadic form of this disease. Overall, this study provides insights into the molecular pathways involved in HS and identifies potential HS-related biomarkers. Full article
(This article belongs to the Special Issue Genetic Advances and -Omic Approaches in Autoimmune/ Autoinflammatory Skin Diseases)
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17 pages, 1484 KiB  
Article
Hair Follicle-Related MicroRNA-34a Serum Expression and rs2666433A/G Variant in Patients with Alopecia: A Cross-Sectional Analysis
by Shymaa Ahmed Maher, Nader Ali Ismail, Eman A. Toraih, Alaa H. Habib, Nawal S. Gouda, Amal H. A. Gomaa, Manal S. Fawzy and Ghada M. Helal
Biomolecules 2022, 12(5), 602; https://doi.org/10.3390/biom12050602 - 19 Apr 2022
Cited by 2 | Viewed by 2074
Abstract
Alopecia areata (AA) is a type of immune-mediated alopecia. Recent studies have suggested microRNAs’ (miRNAs) implication in several cellular processes, including epidermal and hair follicle biology. Single nucleotide polymorphisms (SNPs) can modify gene expression levels, which may induce an autoimmune response. This case–control [...] Read more.
Alopecia areata (AA) is a type of immune-mediated alopecia. Recent studies have suggested microRNAs’ (miRNAs) implication in several cellular processes, including epidermal and hair follicle biology. Single nucleotide polymorphisms (SNPs) can modify gene expression levels, which may induce an autoimmune response. This case–control study included 480 participants (240 for each case/control group). MicroRNA-34a gene (MIR-34A) rs2666433A/G variant was genotyped using real-time allelic discrimination polymerase chain reaction (PCR). Additionally, circulatory miR-34a levels were quantified by quantitative reverse transcription PCR (qRT-PCR). On comparing between alopecia and non-alopecia cohorts, a higher frequency of A variant was noted among patients when compared to controls—A allele: 28 versus 18% (p < 0.001); A/A genotype: 9 versus 2%; A/G genotype: 39 versus 32% (p < 0.001). A/A and A/G carriers were more likely to develop alopecia under heterozygote comparison (OR = 1.83, 95% CI = 1.14–2.93), homozygote comparison (OR = 4.19, 95% CI = 1.33–13.1), dominant (OR = 2.0, 95% CI = 1.27–3.15), recessive (OR = 3.36, 95% CI = 1.08–10.48), over-dominant (OR = 1.65, 95% CI = 1.04–32.63), and log additive (OR = 1.91, 95% CI = 1.3–2.82) models. Serum miR-34a expression levels were upregulated in alopecia patients with a median and quartile fold change of 27.3 (1.42–2430). Significantly higher levels were more pronounced in A/A genotype patients (p < 0.01). Patients carrying the heterozygote genotype (rs2666433 * A/G) were two times more likely to develop more severe disease grades. Stratified analysis by sex revealed the same results. A high expression level was associated with concomitant autoimmune comorbidities (p = 0.001), in particular SLE (p = 0.007) and vitiligo (p = 0.049). In conclusion, the MIR34A rs2666433 (A/G) variant is associated with AA risk and severity in the studied population. Furthermore, high miR-34a circulatory levels could play a role in disease pathogenesis. Full article
(This article belongs to the Special Issue Genetic Advances and -Omic Approaches in Autoimmune/ Autoinflammatory Skin Diseases)
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Review

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27 pages, 2368 KiB  
Review
Anti-Inflammatory microRNAs for Treating Inflammatory Skin Diseases
by Shih-Chun Yang, Ahmed Alalaiwe, Zih-Chan Lin, Yu-Chih Lin, Ibrahim A. Aljuffali and Jia-You Fang
Biomolecules 2022, 12(8), 1072; https://doi.org/10.3390/biom12081072 - 03 Aug 2022
Cited by 11 | Viewed by 4207
Abstract
Skin inflammation occurs due to immune dysregulation because of internal disorders, infections, and allergic reactions. The inflammation of the skin is a major sign of chronic autoimmune inflammatory diseases, such as psoriasis, atopic dermatitis (AD), and lupus erythematosus. Although there are many therapies [...] Read more.
Skin inflammation occurs due to immune dysregulation because of internal disorders, infections, and allergic reactions. The inflammation of the skin is a major sign of chronic autoimmune inflammatory diseases, such as psoriasis, atopic dermatitis (AD), and lupus erythematosus. Although there are many therapies for treating these cutaneous inflammation diseases, their recurrence rates are high due to incomplete resolution. MicroRNA (miRNA) plays a critical role in skin inflammation by regulating the expression of protein-coding genes at the posttranscriptional level during pathogenesis and homeostasis maintenance. Some miRNAs possess anti-inflammatory features, which are beneficial for mitigating the inflammatory response. miRNAs that are reduced in inflammatory skin diseases can be supplied transiently using miRNA mimics and agomir. miRNA-based therapies that can target multiple genes in a given pathway are potential candidates for the treatment of skin inflammation. This review article offers an overview of the function of miRNA in skin inflammation regulation, with a focus on psoriasis, AD, and cutaneous wounds. Some bioactive molecules can target and modulate miRNAs to achieve the objective of inflammation suppression. This review also reports the anti-inflammatory efficacy of these molecules through modulating miRNA expression. The main limitations of miRNA-based therapies are rapid biodegradation and poor skin and cell penetration. Consideration was given to improving these drawbacks using the approaches of cell-penetrating peptides (CPPs), nanocarriers, exosomes, and low-frequency ultrasound. A formulation design for successful miRNA delivery into skin and target cells is also described in this review. The possible use of miRNAs as biomarkers and therapeutic modalities could open a novel opportunity for the diagnosis and treatment of inflammation-associated skin diseases. Full article
(This article belongs to the Special Issue Genetic Advances and -Omic Approaches in Autoimmune/ Autoinflammatory Skin Diseases)
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