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Biomolecules
Special Issues
Recent Advances in Neurological Diseases
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Recent Advances in Neurological Diseases

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

Deadline for manuscript submissions: 30 June 2024 | Viewed by 4459

Special Issue Editors

Dr. Sara Carpi

E-Mail Website
Guest Editor
1. Department of Health Sciences, University ‘Magna Græcia’ of Catanzaro, Viale Europa, Località Germaneto, 88100 Catanzaro, Italy
2. NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Piazza San Silvestro 12, 56127 Pisa, Italy
Interests: pharmacology; molecular pharmacology; microRNA
Special Issues, Collections and Topics in MDPI journals
Dr. Antonio Leo

E-Mail Website
Guest Editor
Department of Health Sciences, University ‘Magna Græcia’ of Catanzaro, Viale Europa, Località Germaneto, 88100 Catanzaro, Italy
Interests: epileptic disease; neuropsychiatric comorbidities; neurodegenerative
Dr. Ambra Del Grosso

E-Mail Website
Guest Editor
NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Piazza San Silvestro 12, 56127 Pisa, Italy
Interests: autophagy; nanomedicine; molecular neurosciences; lysosomal storage disorders

Special Issue Information

Dear Colleagues,

Neurological and psychiatric disorders are among the most widespread noncommunicable diseases, affecting hundreds of millions of individuals worldwide.

Currently, more than six hundred diseases have been identified, including neurodegenerative diseases, cerebrovascular diseases, neuromuscular diseases, neurological diseases, and many others, such as epilepsy, multiple sclerosis, stroke, migraines, brain tumors, traumatic disorders, and neurodevelopmental disorders. As a result of these neurological disorders, neurodegeneration may occur, which may lead to cognitive impairments. Psychiatric diseases are also known to be associated with chronic neurological disorders.

The etiology and the clinical manifestation of these conditions are complex, and a reliable diagnostic tool and effective treatment remain as unmet medical needs.

In this regard, understanding the mechanisms underlying the pathogenesis of neurological and psychiatric disorders will confer a great opportunity to delineate therapeutic interventions and diagnostic biomarkers.

Researchers are invited to submit original research or review articles highlighting their advanced research that encompasses all neurological and psychiatric diseases for publication in this Special Issue in the journal Biomolecules. Especially welcome are articles examining novel molecular mechanisms from a diagnostic and therapeutic perspective and those focusing on restoring glial and neuronal activity or reducing neuroinflammation.

Dr. Sara Carpi
Dr. Antonio Leo
Dr. Ambra Del Grosso
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

  • neurological disorders
  • neurodegeneration
  • neuroinflammation
  • myelin damage
  • developmental disorders
  • epilepsy
  • neurodegenerative rare diseases
  • neuromuscular diseases
  • lipid storage diseases
  • psychiatric diseases

Published Papers (3 papers)

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21 pages, 4911 KiB  
Article
Age-Dependent Activation of Purinergic Transmission Contributes to the Development of Epileptogenesis in ADSHE Model Rats
by Kouji Fukuyama, Eishi Motomura and Motohiro Okada
Biomolecules 2024, 14(2), 204; https://doi.org/10.3390/biom14020204 - 08 Feb 2024
Viewed by 967
Abstract
To explore the developmental processes of epileptogenesis/ictogenesis, this study determined age-dependent functional abnormalities associated with purinergic transmission in a genetic rat model (S286L-TG) of autosomal-dominant sleep-related hypermotor epilepsy (ADSHE). The age-dependent fluctuations in the release of ATP and L-glutamate in the orbitofrontal cortex [...] Read more.
To explore the developmental processes of epileptogenesis/ictogenesis, this study determined age-dependent functional abnormalities associated with purinergic transmission in a genetic rat model (S286L-TG) of autosomal-dominant sleep-related hypermotor epilepsy (ADSHE). The age-dependent fluctuations in the release of ATP and L-glutamate in the orbitofrontal cortex (OFC) were determined using microdialysis and ultra-high-performance liquid chromatography with mass spectrometry (UHPLC-MS). ATP release from cultured astrocytes was also determined using UHPLC-MS. The expressions of P2X7 receptor (P2X7R), connexin 43, phosphorylated-Akt and phosphorylated-Erk were determined using capillary immunoblotting. No functional abnormalities associated with purinergic transmission could be detected in the OFC of 4-week-old S286L-TG and cultured S286L-TG astrocytes. However, P2X7R expression, as well as basal and P2X7R agonist-induced ATP releases, was enhanced in S286L-TG OFC in the critical ADSHE seizure onset period (7-week-old). Long-term exposure to a modest level of P2X7R agonist, which could not increase astroglial ATP release, for 14 d increased the expressions of P2X7R and connexin 43 and the signaling of Akt and Erk in astrocytes, and it enhanced the sensitivity of P2X7R to its agonists. Akt but not Erk increased P2X7R expression, whereas both Akt and Erk increased connexin 43 expression. Functional abnormalities, enhanced ATP release and P2X7R expression were already seen before the onset of ADSHE seizure in S286L-TG. Additionally, long-term exposure to the P2X7R agonist mimicked the functional abnormalities associated with purinergic transmission in astrocytes, similar to those in S286L-TG OFC. Therefore, these results suggest that long-term modestly enhanced purinergic transmission and/or activated P2X7R are, at least partially, involved in the development of the epileptogenesis of ADSHE, rather than that of ictogenesis. Full article
(This article belongs to the Special Issue Recent Advances in Neurological Diseases)
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21 pages, 6484 KiB  
Article
Untargeted Lipidomic Approach for Studying Different Nervous System Tissues of the Murine Model of Krabbe Disease
by Husam B. R. Alabed, Ambra Del Grosso, Valeria Bellani, Lorena Urbanelli, Sara Carpi, Miriam De Sarlo, Lorenzo Bertocci, Laura Colagiorgio, Sandra Buratta, Luca Scaccini, Dorotea Frongia Mancini, Ilaria Tonazzini, Marco Cecchini, Carla Emiliani and Roberto Maria Pellegrino
Biomolecules 2023, 13(10), 1562; https://doi.org/10.3390/biom13101562 - 23 Oct 2023
Cited by 2 | Viewed by 1432
Abstract
Krabbe disease is a rare neurodegenerative disease with an autosomal recessive character caused by a mutation in the GALC gene. The mutation leads to an accumulation of psychosine and a subsequent degeneration of oligodendrocytes and Schwann cells. Psychosine is the main biomarker of [...] Read more.
Krabbe disease is a rare neurodegenerative disease with an autosomal recessive character caused by a mutation in the GALC gene. The mutation leads to an accumulation of psychosine and a subsequent degeneration of oligodendrocytes and Schwann cells. Psychosine is the main biomarker of the disease. The Twitcher mouse is the most commonly used animal model to study Krabbe disease. Although there are many references to this model in the literature, the lipidomic study of nervous system tissues in the Twitcher model has received little attention. This study focuses on the comparison of the lipid profiles of four nervous system tissues (brain, cerebellum, spinal cord, and sciatic nerve) in the Twitcher mouse compared to the wild-type mouse. Altogether, approximately 230 molecular species belonging to 19 lipid classes were annotated and quantified. A comparison at the levels of class, molecular species, and lipid building blocks showed significant differences between the two groups, particularly in the sciatic nerve. The in-depth study of the lipid phenotype made it possible to hypothesize the genes and enzymes involved in the changes. The integration of metabolic data with genetic data may be useful from a systems biology perspective to gain a better understanding of the molecular basis of the disease. Full article
(This article belongs to the Special Issue Recent Advances in Neurological Diseases)
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34 pages, 3157 KiB  
Systematic Review
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature
by Adina Stoian, Zoltan Bajko, Rodica Bălașa, Sebastian Andone, Mircea Stoian, Ioana Ormenișan, Carmen Muntean and Claudia Bănescu
Biomolecules 2024, 14(3), 270; https://doi.org/10.3390/biom14030270 - 23 Feb 2024
Viewed by 1595
Abstract
Background: Developmental and epileptic encephalopathies (DEE) encompass a group of rare diseases with hereditary and genetic causes as well as acquired causes such as brain injuries or metabolic abnormalities. The phosphofurin acidic cluster sorting protein 2 (PACS2) is a multifunctional protein with nuclear [...] Read more.
Background: Developmental and epileptic encephalopathies (DEE) encompass a group of rare diseases with hereditary and genetic causes as well as acquired causes such as brain injuries or metabolic abnormalities. The phosphofurin acidic cluster sorting protein 2 (PACS2) is a multifunctional protein with nuclear gene expression. The first cases of the recurrent c.625G>A pathogenic variant of PACS2 gene were reported in 2018 by Olson et al. Since then, several case reports and case series have been published. Methods: We performed a systematic review of the PUBMED and SCOPUS databases using Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines. Our search parameters included DEE66 with a pathogenic PACS2 gene p.Glu209Lys mutation published cases to which we added our own clinical experience regarding this pathology. Results: A total of 11 articles and 29 patients were included in this review, to which we added our own experience for a total of 30 patients. There was not a significant difference between sexes regarding the incidence of this pathology (M/F: 16/14). The most common neurological and psychiatric symptoms presented by the patients were: early onset epileptic seizures, delayed global development (including motor and speech delays), behavioral disturbances, limited intellectual capacity, nystagmus, hypotonia, and a wide-based gait. Facial dysmorphism and other organs’ involvement were also frequently reported. Brain MRIs evidenced anomalies of the posterior cerebellar fossa, foliar distortion of the cerebellum, vermis hypoplasia, white matter reduction, and lateral ventricles enlargement. Genetic testing is more frequent in children. Only 4 cases have been reported in adults to date. Conclusions: It is important to maintain a high suspicion of new pathogenic gene variants in adult patients presenting with a characteristic clinical picture correlated with radiologic changes. The neurologist must gradually recognize the distinct evolving phenotype of DEE66 in adult patients, and genetic testing must become a scenario with which the neurologist attending adult patients should be familiar. Accurate diagnosis is required for adequate treatment, genetic counseling, and an improved long-term prognosis. Full article
(This article belongs to the Special Issue Recent Advances in Neurological Diseases)
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