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Autoinflammatory Disorders and Neuronal Dysfunction
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Autoinflammatory Disorders and Neuronal Dysfunction

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Mental Health".

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 13390

Special Issue Editors

Prof. Dr. Annalisa Marcuzzi

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Guest Editor
Department of Morphology, Surgery & Experimental Medicine, University of Ferrara, 44121 Ferrara, Italy
Interests: autoinflammatory diseases; periodic fever; mevalonate kinase deficiency; mitochondria; neuronal dysfunction
Special Issues, Collections and Topics in MDPI journals
Dr. Elisabetta Melloni

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Assistant Guest Editor
Department of Translational Medicine and LTTA Centre, University of Ferrara, 44121 Ferrara, Italy
Interests: cell and molecular biology; anticancer and antiinflammatory effects of new compounds; flow cytometry
Special Issues, Collections and Topics in MDPI journals
Dr. Elisa Piscianz

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Assistant Guest Editor
Clinical Department of Pediatrics, Institute for Maternal and Child Health, Burlo Garofolo, 34137 Trieste, Italy
Interests: inflammation; immunology; interferonopathies; drug therapy; lymphocytes; immunodeficiency diseases

Special Issue Information

Dear Colleagues,

Autoinflammatory diseases are a group of rare disorders characterized by the defective regulation of inflammation with seemingly unprovoked bouts of inflammation. Diagnosis is often complex given the rarity of these conditions and the heterogeneous clinical phenotype. Cases with early onset in childhood are often due to genetic disorders, which provide simplified models to study disease pathogenesis and to detect and validate targets for therapies. This is particularly true for the neurological aspects that represent the most severe manifestations of some autoinflammatory disorders, as in the case of interferon-mediated autoinflammation. Moreover, neuronal phenotypes still represent a challenge for clinicians as concern diagnosis, since phenotypes can vary widely.

Recent advances in the study of the pathogenetic mechanisms of these conditions have made it possible to develop drugs capable of achieving good disease control in some of these disorders. Therefore, an early diagnosis is desirable in order to start an adequate therapy by reducing the risk of the onset of long-term complications.

This Special Issue focuses on the role of neuronal impairment in autoinflammatory diseases from various perspectives: new insight on molecular mechanisms for early diagnosis and targeted therapy, the use of biologics as well as novel small molecules, therapeutic strategies to treat neuronal dysfunction, and innovative tools for diagnosis and monitoring disease course.

Pediatricians, immunologists, rheumatologists, biologists, and pharmacologists, but not only these groups, are invited to contribute to this Special Issue by submitting papers that may be in the form of original studies, reviews, case studies, and meta-analyses on this topic.

Prof. Dr. Annalisa Marcuzzi
Dr. Elisabetta Melloni
Dr. Elisa Piscianz
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 Environmental Research and Public Health 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 2500 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

  • Autoinflammatory disease
  • Neuroinflammation
  • Cytokines
  • Mitochondria
  • Neurons
  • Inflammosome
  • Neuronal dysfunction
  • Drug therapy
  • Small molecules
  • Biologic drugs

Published Papers (6 papers)

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Research

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24 pages, 3556 KiB  
Article
Effects of Microencapsulated Ferulic Acid or Its Prodrug Methyl Ferulate on Neuroinflammation Induced by Muramyl Dipeptide
by Giada Botti, Anna Bianchi, Barbara Pavan, Paola Tedeschi, Valentina Albanese, Luca Ferraro, Federico Spizzo, Lucia Del Bianco and Alessandro Dalpiaz
Int. J. Environ. Res. Public Health 2022, 19(17), 10609; https://doi.org/10.3390/ijerph191710609 - 25 Aug 2022
Cited by 2 | Viewed by 1505
Abstract
Ferulic acid (Fer) is known for its antioxidant and anti-inflammatory activities, which are possibly useful against neurodegenerative diseases. Despite the ability of Fer to permeate the brain, its fast elimination from the body does not allow its therapeutic use to be optimized. The [...] Read more.
Ferulic acid (Fer) is known for its antioxidant and anti-inflammatory activities, which are possibly useful against neurodegenerative diseases. Despite the ability of Fer to permeate the brain, its fast elimination from the body does not allow its therapeutic use to be optimized. The present study proposes the preparation and characterization of tristearin- or stearic acid-based solid lipid microparticles (SLMs) as sustained delivery and targeting systems for Fer. The microparticles were produced by conventional hot emulsion techniques. The synthesis of the methyl ester of Fer (Fer-Me) allowed its encapsulation in the SLMs to increase. Fer-Me was hydrolyzed to Fer in rat whole blood and liver homogenate, evidencing its prodrug behavior. Furthermore, Fer-Me displayed antioxidant and anti-inflammatory properties. The amount of encapsulated Fer-Me was 0.719 ± 0.005% or 1.507 ± 0.014% in tristearin or stearic acid SLMs, respectively. The tristearin SLMs were able to control the prodrug release, while the stearic acid SLMs induced a significant increase of its dissolution rate in water. Jointly, the present results suggest that the tristearin SLMs loaded with Fer-Me could be a potential formulation against peripheral neuropathic pain; conversely, the stearic acid SLMs could be useful for Fer-Me uptake in the brain after nasal administration of the formulation. Full article
(This article belongs to the Special Issue Autoinflammatory Disorders and Neuronal Dysfunction)
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15 pages, 4716 KiB  
Article
Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis
by Simona Pisanti, Marianna Citro, Mario Abate, Mariella Caputo and Rosanna Martinelli
Int. J. Environ. Res. Public Health 2021, 18(3), 1170; https://doi.org/10.3390/ijerph18031170 - 28 Jan 2021
Cited by 1 | Viewed by 2123
Abstract
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory genetic disorder characterized by recurrent fever attacks and systemic inflammation with potentially severe complications. Although it is recognized that the lack of protein prenylation consequent to mevalonate pathway blockade drives IL1β hypersecretion, and hence autoinflammation, [...] Read more.
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory genetic disorder characterized by recurrent fever attacks and systemic inflammation with potentially severe complications. Although it is recognized that the lack of protein prenylation consequent to mevalonate pathway blockade drives IL1β hypersecretion, and hence autoinflammation, MKD pathogenesis and the molecular mechanisms underlaying most of its clinical manifestations are still largely unknown. In this study, we performed a comprehensive bioinformatic analysis of a microarray dataset of MKD patients, using gene ontology and Ingenuity Pathway Analysis (IPA) tools, in order to identify the most significant differentially expressed genes and infer their predicted relationships into biological processes, pathways, and networks. We found that hematopoiesis linked biological functions and pathways are predominant in the gene ontology of differentially expressed genes in MKD, in line with the observed clinical feature of anemia. We also provided novel information about the molecular mechanisms at the basis of the hematological abnormalities observed, that are linked to the chronic inflammation and to defective prenylation. Considering the broad and unspecific spectrum of MKD clinical manifestations and the difficulty in its diagnosis, a better understanding of MKD molecular bases could be translated to the clinical level to facilitate diagnosis, and improve management and therapy. Full article
(This article belongs to the Special Issue Autoinflammatory Disorders and Neuronal Dysfunction)
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11 pages, 1079 KiB  
Article
Association between SSNHL and Thyroid Diseases
by So Young Kim, Young Shin Song, Jee Hye Wee, Chanyang Min, Dae Myoung Yoo and Hyo Geun Choi
Int. J. Environ. Res. Public Health 2020, 17(22), 8419; https://doi.org/10.3390/ijerph17228419 - 13 Nov 2020
Cited by 7 | Viewed by 1986
Abstract
The association between thyroid disease and sudden sensorineural hearing loss (SSNHL) has not been evaluated. We investigated the association of goiter, hypothyroidism, thyroiditis, and hyperthyroidism with sudden sensorineural hearing loss (SSNHL). Data from the Korean National Health Insurance Service-Health Screening Cohort were used. [...] Read more.
The association between thyroid disease and sudden sensorineural hearing loss (SSNHL) has not been evaluated. We investigated the association of goiter, hypothyroidism, thyroiditis, and hyperthyroidism with sudden sensorineural hearing loss (SSNHL). Data from the Korean National Health Insurance Service-Health Screening Cohort were used. The 8658 SSNHL patients were matched in a 1:4 ratio with 34,632 controls for age, sex, and region of residence. Histories of goiter, hypothyroidism, thyroiditis, hyperthyroidism, and Levothyroxine medication were explored as possible factors influencing SSNHL development. Associations were estimated using conditional logistic regression analyses, adjusted for Levothyroxine medication use. Subgroup analyses were conducted according to age, sex, income, and region of residence. SSNHL patients had a higher rate of goiter occurrence (4.4% vs. 3.7 %, p = 0.001) and hypothyroidism (4.0% vs. 3.2 %, p < 0.001) than controls. Goiter and hypothyroidism were positively associated with SSNHL (adjusted OR =1.14 (95% CI =1.01–1.28), p = 0.043 for goiter and 1.17 (95% CI =1.03–1.33), p = 0.016 for hypothyroidism). In subgroup analyses, hypothyroidism or goiter was more prevalent in SSNHL patients than in controls. Lower-income subgroups showed associations of hypothyroidism and goiter with SSNHL. SSNHL patients were more likely to have goiter and hypothyroidism than normal individuals. Full article
(This article belongs to the Special Issue Autoinflammatory Disorders and Neuronal Dysfunction)
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10 pages, 320 KiB  
Article
VAV1 Gene Polymorphisms in Patients with Rheumatoid Arthritis
by Andrzej Pawlik, Damian Malinowski, Agnieszka Paradowska-Gorycka, Krzysztof Safranow and Violetta Dziedziejko
Int. J. Environ. Res. Public Health 2020, 17(9), 3214; https://doi.org/10.3390/ijerph17093214 - 05 May 2020
Cited by 4 | Viewed by 2030
Abstract
Introduction: Rheumatoid arthritis (RA) is an important public health problem because this disease often causes disability. RA is a chronic, destructive autoimmune disease that leads to joint destruction and the development of extraarticular manifestations. VAV1 is an intracellular signal transduction protein that plays [...] Read more.
Introduction: Rheumatoid arthritis (RA) is an important public health problem because this disease often causes disability. RA is a chronic, destructive autoimmune disease that leads to joint destruction and the development of extraarticular manifestations. VAV1 is an intracellular signal transduction protein that plays a significant role in signal transduction in T cells and affects T cell development, proliferation and activation. The VAV1 gene contains 27 exons and is located on chromosome 19. In this study, we examined the association between VAV1 rs2546133 and rs2617822 polymorphisms and RA. Methods: We examined 422 patients with RA and 338 healthy subjects as the control group. Results: Among RA patients, there was a statistically significant increase in the frequency of VAV1 rs2546133 polymorphism in T allele carriers (TT + CT versus CC, odds ratio: 1.69, 95% confidence interval 1.05–2.73, p = 0.035). There was no statistically significant difference in the distribution of the rs2617822 genotypes and alleles between RA patients and the control group. Additionally, patients who carried the VAV1 rs2546133 T and rs2617822 G allele presented an increased frequency of extraarticular manifestations: vasculitis, amyloidosis and Sjogren syndrome. Conclusions: The results suggest an association between VAV1 gene rs2617822 polymorphism and RA. Full article
(This article belongs to the Special Issue Autoinflammatory Disorders and Neuronal Dysfunction)

Review

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15 pages, 1137 KiB  
Review
Prenylation Defects and Oxidative Stress Trigger the Main Consequences of Neuroinflammation Linked to Mevalonate Pathway Deregulation
by Simona Pisanti, Erika Rimondi, Elena Pozza, Elisabetta Melloni, Enrico Zauli, Maurizio Bifulco, Rosanna Martinelli and Annalisa Marcuzzi
Int. J. Environ. Res. Public Health 2022, 19(15), 9061; https://doi.org/10.3390/ijerph19159061 - 25 Jul 2022
Cited by 1 | Viewed by 2164
Abstract
The cholesterol biosynthesis represents a crucial metabolic pathway for cellular homeostasis. The end products of this pathway are sterols, such as cholesterol, which are essential components of cell membranes, precursors of steroid hormones, bile acids, and other molecules such as ubiquinone. Furthermore, some [...] Read more.
The cholesterol biosynthesis represents a crucial metabolic pathway for cellular homeostasis. The end products of this pathway are sterols, such as cholesterol, which are essential components of cell membranes, precursors of steroid hormones, bile acids, and other molecules such as ubiquinone. Furthermore, some intermediates of this metabolic system perform biological activity in specific cellular compartments, such as isoprenoid molecules that can modulate different signal proteins through the prenylation process. The defects of prenylation represent one of the main causes that promote the activation of inflammation. In particular, this mechanism, in association with oxidative stress, induces a dysfunction of the mitochondrial activity. The purpose of this review is to describe the pleiotropic role of prenylation in neuroinflammation and to highlight the consequence of the defects of prenylation. Full article
(This article belongs to the Special Issue Autoinflammatory Disorders and Neuronal Dysfunction)
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17 pages, 1468 KiB  
Review
Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain
by Alessandra Tesser, Alessia Pin, Elisabetta Mencaroni, Virginia Gulino and Alberto Tommasini
Int. J. Environ. Res. Public Health 2021, 18(11), 5585; https://doi.org/10.3390/ijerph18115585 - 24 May 2021
Cited by 1 | Viewed by 2710
Abstract
More and more findings suggest that neurological disorders could have an immunopathological cause. Thus, immune-targeted therapies are increasingly proposed in neurology (even if often controversial), as anakinra, inhibiting IL-1 for febrile inflammatory illnesses, and JAK inhibitors for anti-interferons treatment. Precision medicine in neurology [...] Read more.
More and more findings suggest that neurological disorders could have an immunopathological cause. Thus, immune-targeted therapies are increasingly proposed in neurology (even if often controversial), as anakinra, inhibiting IL-1 for febrile inflammatory illnesses, and JAK inhibitors for anti-interferons treatment. Precision medicine in neurology could be fostered by a better understanding of the disease machinery, to develop a rational use of immuno-modulators in clinical trials. In this review, we focus on monogenic disorders with neurological hyper-inflammation/autoimmunity as simplified “models” to correlate immune pathology and targeted treatments. The study of monogenic models yields great advantages for the elucidation of the pathogenic mechanisms that can be reproduced in cellular/animal models, overcoming the limitations of biological samples to study. Moreover, monogenic disorders provide a unique tool to study the mechanisms of neuroinflammatory and autoimmune brain damage, in all their manifestations. The insight of clinical, pathological, and therapeutic aspects of the considered monogenic models can impact knowledge about brain inflammation and can provide useful hints to better understand and cure some neurologic multifactorial disorders. Full article
(This article belongs to the Special Issue Autoinflammatory Disorders and Neuronal Dysfunction)
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