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Biomolecules
Special Issues
Molecular Basis of Neuromuscular Diseases 2.0
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Molecular Basis of Neuromuscular Diseases 2.0

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

Deadline for manuscript submissions: closed (15 January 2024) | Viewed by 2963

Special Issue Editors

Dr. Pasquale Scarcia

E-Mail Website
Guest Editor
Department of Biosciences, Biotechnologies and Biopharmaceutics, Università degli Studi di Bari, Bari, Italy
Interests: mitochondrial carriers, bioenergetics, mitochondrial metabolism; rare diseases; gene expression; Saccharomyces cerevisiae
Special Issues, Collections and Topics in MDPI journals
Dr. Rosita Curcio

E-Mail Website
Guest Editor
Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036 Rende, Italy
Interests: bioenergetics; mitochondrial carriers; mutagenesis, drosophila melanogaster; mitochondrial diseases; mitochondrial dysfunction; apoptosis; ROS; antioxidant and anti-inflammatory activity; cancer metabolism; anticancer agents
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neuromuscular diseases (NMDs) are caused by impaired muscle function, with many different forms that vary in their onset, severity, and prognosis. NMDs can be classified into hereditary or acquired disorders with sensory impairments, motor deficits, or both. Muscle damage generally involves muscle weakness and fatigue, and it can be linked to motor neuron diseases (such as amyotrophic lateral sclerosis), peripheral neuropathy, neuromuscular junction disorders (such as myasthenia gravis), and myopathy. These alterations can be determined by the pathologies of the muscles or by alterations in the nerves or neuromuscular junctions. Furthermore, NMDs can also cause age-related neurodegenerative disorders. To date, many neuromuscular diseases have no cure and their pathogenesis is not well-known.

The alterations of many cellular processes and metabolic pathways underlie the onset of NMDs. The development of omics techniques (i.e., metabolomics, transcriptomics, and lipidomics) shed new light on various factors and disease-causing mechanisms that contribute to NMDs.

The Special Issue will focus on understanding the molecular foundations and metabolic alterations that underlie neuromuscular pathologies. Original manuscripts and reviews with a particular focus on the pathophysiology of muscular diseases, prognostic and diagnostic biomarkers of NMDs, as well as the use of non-mammalian models (i.e., Caenorhabditis elegans and Drosophila melanogaster) to investigate neuromuscular pathologies, are very welcome.

Dr. Pasquale Scarcia
Dr. Rosita Curcio
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.

Published Papers (2 papers)

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10 pages, 1059 KiB  
Article
Deregulation of Plasma microRNA Expression in a TARDBP-ALS Family
by Paola Ruffo, Stefania Catalano, Vincenzo La Bella and Francesca Luisa Conforti
Biomolecules 2023, 13(4), 706; https://doi.org/10.3390/biom13040706 - 21 Apr 2023
Cited by 3 | Viewed by 1347
Abstract
TDP-43 intracellular aggregates are a pathogenic sign of most amyotrophic lateral sclerosis (ALS) cases. Familial ALS, brought on by TARDBP gene mutations, emphasizes the relevance of this altered protein in pathophysiology. Growing evidence suggests a role for dysregulated microRNA (miRNA) in ALS disease. [...] Read more.
TDP-43 intracellular aggregates are a pathogenic sign of most amyotrophic lateral sclerosis (ALS) cases. Familial ALS, brought on by TARDBP gene mutations, emphasizes the relevance of this altered protein in pathophysiology. Growing evidence suggests a role for dysregulated microRNA (miRNA) in ALS disease. Furthermore, several studies showed that miRNAs are highly stable in various biological fluids (CSF, blood, plasma, and serum), and they are expressed differentially by comparing ALS patients and controls. In 2011, our research group discovered a rare mutation in a TARDBP gene (G376D) in a large ALS Apulian family with affected members exhibiting a rapidly progressing disease. To identify potential non-invasive biomarkers of preclinical and clinical progression in the TARDBP-ALS family, we assessed the expression levels of plasma microRNAs in affected patients (n = 7) and asymptomatic mutation carriers (n = 7) compared with healthy controls (n = 13). Applying qPCR, we investigate 10 miRNAs that bind TDP-43 in vitro during their biogenesis or in their mature form, and the other nine are known to be deregulated in the disease. We highlight the potential of miR-132-5p, miR-132-3p, miR-124-3p, and miR-133a-3p expression levels in plasma as biomarkers of preclinical progression for G376D-TARDBP-associated ALS. Our research strongly supports the potential of plasma miRNAs as biomarkers for performing predictive diagnostics and identifying new therapeutic targets. Full article
(This article belongs to the Special Issue Molecular Basis of Neuromuscular Diseases 2.0)
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Review

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18 pages, 2504 KiB  
Review
A Machine Learning Approach for Highlighting microRNAs as Biomarkers Linked to Amyotrophic Lateral Sclerosis Diagnosis and Progression
by Graziantonio Lauria, Rosita Curcio and Paola Tucci
Biomolecules 2024, 14(1), 47; https://doi.org/10.3390/biom14010047 - 29 Dec 2023
Viewed by 1096
Abstract
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons in the brain and spinal cord. The early diagnosis of ALS can be challenging, as it usually depends on clinical examination and the exclusion of other [...] Read more.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons in the brain and spinal cord. The early diagnosis of ALS can be challenging, as it usually depends on clinical examination and the exclusion of other possible causes. In this regard, the analysis of miRNA expression profiles in biofluids makes miRNAs promising non-invasive clinical biomarkers. Due to the increasing amount of scientific literature that often provides controversial results, this work aims to deepen the understanding of the current state of the art on this topic using a machine-learning-based approach. A systematic literature search was conducted to analyze a set of 308 scientific articles using the MySLR digital platform and the Latent Dirichlet Allocation (LDA) algorithm. Two relevant topics were identified, and the articles clustered in each of them were analyzed and discussed in terms of biomolecular mechanisms, as well as in translational and clinical settings. Several miRNAs detected in the tissues and biofluids of ALS patients, including blood and cerebrospinal fluid (CSF), have been linked to ALS diagnosis and progression. Some of them may represent promising non-invasive clinical biomarkers. In this context, future scientific priorities and goals have been proposed. Full article
(This article belongs to the Special Issue Molecular Basis of Neuromuscular Diseases 2.0)
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