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Cells
Special Issues
Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets
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Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: closed (20 November 2024) | Viewed by 17373

Special Issue Editors

Dr. Corinna Preusse

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Guest Editor
Department of Neuropathology, Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117 Berlin, Germany
Interests: basic research; neuromuscular disorders; myositis; immune regulations; immune cells; histology; gene analyses
Special Issues, Collections and Topics in MDPI journals
Dr. Sarah Hoffmann

E-Mail Website
Guest Editor
Integrated Myasthenia Gravis Centre (IMZ), NeuroCure Clinical Research Center (NCRC), Department of Neurology, Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117 Berlin, Germany
Interests: clinical neurology; neuroimmunology; neuroinflammation; myasthenia gravis
Dr. Andreas Roos

E-Mail Website
Guest Editor
1. Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr University Bochum, 44789 Bochum, Germany
2. Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany
Interests: neurodegenerative and neuromuscular disorders
Prof. Dr. Tobias Ruck

E-Mail Website
Guest Editor
Department of Neurology, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany
Interests: basic research; neuromuscular disorders; autoimmunity; myositis; myopathies; myasthenia gravis; immune cell activation; immune cell function; immune cell migration; immune cell maturation
Special Issues, Collections and Topics in MDPI journals
Marie-Therese Holzer

E-Mail Website
Guest Editor Assistant
III. Department of Medicine, Division of Rheumatology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, D-20246 Hamburg, Germany
Interests: translational research; myositis; connective tissue diseases; autoimmunity; immune cell function; immune cell differentiation; biomarkers; histology; new therapeutic approaches

Special Issue Information

Dear Colleagues,

Neuromuscular diseases (NMD) encompass cellular malfunctions affecting the peripheral nervous system, the neuromuscular junctions or the skeletal muscles or even a combination of such. Although individual entities often qualify as rare diseases, the entire group of NMDs affects a significant number of people of all age groups and further research is urgently needed. Atrophy, degeneration, and inflammation are typical phenomena that can e.g., result from external stimuli, infections, autoimmunity or genetic causes. While ongoing research and our ever-growing knowledge is paving the way for new treatment options, many entities still lack specific treatment options. Here, pre-clinical research is an important prerequisite for the identification and definition of new starting points for therapeutic intervention concepts as well as for patient stratification. 
Along this line, one of the current challenges remains in understanding the underlying disease-specific pathomechanisms and moving toward patient-oriented, individualized treatment. To highlight this need, we provide the current special issue of Cells, which aims to address all forms of neuromuscular diseases. The focus lies on implementation of new developments, studies from basic research to patient stratification, including biomarker discovery and the definition of novel therapeutic targets to clinical applications.
We look forward to your exciting contributions.

Dr. Corinna Preusse
Dr. Sarah Hoffmann
Dr. Andreas Roos
Prof. Dr. Tobias Ruck
Guest Editors

Marie-Therese Holzer
Guest Editor Assistant

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. Cells is an international peer-reviewed open access semimonthly 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

  • neuromuscular disorders
  • myositis
  • myasthenia gravis
  • genetic mutations
  • muscle inflammation
  • de-/regeneration
  • immune cell infiltration
  • new therapy options
  • targeted therapy

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Published Papers (5 papers)

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Research

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17 pages, 4091 KiB  
Article
Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology
by Markus Leo, Linda-Isabell Schmitt, Fabian Mairinger, Andreas Roos, Christina Hansmann, Stefanie Hezel, Jelena Skuljec, Refik Pul, Ulrike Schara-Schmidt, Christoph Kleinschnitz and Tim Hagenacker
Cells 2023, 12(19), 2374; https://doi.org/10.3390/cells12192374 - 28 Sep 2023
Viewed by 1796
Abstract
5q-related Spinal muscular atrophy (SMA) is a hereditary multi-systemic disorder leading to progressive muscle atrophy and weakness caused by the degeneration of spinal motor neurons (MNs) in the ventral horn of the spinal cord. Three SMN-enhancing drugs for SMA treatment are available. However, [...] Read more.
5q-related Spinal muscular atrophy (SMA) is a hereditary multi-systemic disorder leading to progressive muscle atrophy and weakness caused by the degeneration of spinal motor neurons (MNs) in the ventral horn of the spinal cord. Three SMN-enhancing drugs for SMA treatment are available. However, even if these drugs are highly effective when administrated early, several patients do not benefit sufficiently or remain non-responders, e.g., adults suffering from late-onset SMA and starting their therapy at advanced disease stages characterized by long-standing irreversible loss of MNs. Therefore, it is important to identify additional molecular targets to expand therapeutic strategies for SMA treatment and establish prognostic biomarkers related to the treatment response. Using high-throughput nCounter NanoString technology, we analyzed serum samples of late-onset SMA type 2 and type 3 patients before and six months under nusinersen treatment. Four genes (AMIGO1, CA2, CCL5, TLR2) were significantly altered in their transcript counts in the serum of patients, where differential expression patterns were dependent on SMA subtype and treatment response, assessed with outcome scales. No changes in gene expression were observed six months after nusinersen treatment, compared to healthy controls. These alterations in the transcription of four genes in SMA patients qualified those genes as potential SMN-independent therapeutic targets to complement current SMN-enhancing therapies. Full article
(This article belongs to the Special Issue Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets)
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13 pages, 1629 KiB  
Article
Identification of Unique microRNA Profiles in Different Types of Idiopathic Inflammatory Myopathy
by Sandra Muñoz-Braceras, Iago Pinal-Fernandez, Maria Casal-Dominguez, Katherine Pak, José César Milisenda, Shajia Lu, Massimo Gadina, Faiza Naz, Gustavo Gutierrez-Cruz, Stefania Dell’Orso, Jiram Torres-Ruiz, Josep Maria Grau-Junyent, Albert Selva-O’Callaghan, Julie J. Paik, Jemima Albayda, Lisa Christopher-Stine, Thomas E. Lloyd, Andrea M. Corse and Andrew L. Mammen
Cells 2023, 12(17), 2198; https://doi.org/10.3390/cells12172198 - 2 Sep 2023
Cited by 8 | Viewed by 2506
Abstract
Dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM) are four major types of idiopathic inflammatory myopathy (IIM). Muscle biopsies from each type of IIM have unique transcriptomic profiles. MicroRNAs (miRNAs) target messenger RNAs (mRNAs), thereby regulating their [...] Read more.
Dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM) are four major types of idiopathic inflammatory myopathy (IIM). Muscle biopsies from each type of IIM have unique transcriptomic profiles. MicroRNAs (miRNAs) target messenger RNAs (mRNAs), thereby regulating their expression and modulating transcriptomic profiles. In this study, 18 DM, 12 IMNM, 6 AS, 6 IBM, and 6 histologically normal muscle biopsies underwent miRNA profiling using the NanoString nCounter system. Eleven miRNAs were exclusively differentially expressed in DM compared to controls, seven miRNAs were only differentially expressed in AS, and nine miRNAs were specifically upregulated in IBM. No differentially expressed miRNAs were identified in IMNM. We also analyzed miRNA-mRNA associations to identify putative targets of differentially expressed miRNAs. In DM and AS, these were predominantly related to inflammation and cell cycle progression. Moreover, our analysis showed an association between miR-30a-3p, miR-30e-3p, and miR-199b-5p downregulation in DM and the upregulation of target genes induced by type I interferon. In conclusion, we show that muscle biopsies from DM, AS, and IBM patients have unique miRNA signatures and that these miRNAs might play a role in regulating the expression of genes known to be involved in IIM pathogenesis. Full article
(This article belongs to the Special Issue Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets)
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15 pages, 6397 KiB  
Article
Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model
by Marlena Rohm, Leon Volke, Lara Schlaffke, Robert Rehmann, Nicolina Südkamp, Andreas Roos, Anne Schänzer, Andreas Hentschel and Matthias Vorgerd
Cells 2023, 12(12), 1602; https://doi.org/10.3390/cells12121602 - 11 Jun 2023
Viewed by 2253
Abstract
Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent from the GAA residual enzyme activity. This study aimed to investigate early [...] Read more.
Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent from the GAA residual enzyme activity. This study aimed to investigate early proteomic changes in a mouse model of Pompe disease and identify potential therapeutic pathways using proteomic analysis of skeletal muscles from pre-symptomatic Pompe mice. For this purpose, quadriceps samples of Gaa6neo/6neo mutant (Pompe) and wildtype mice, at the age of six weeks, were studied with three biological replicates for each group. The data were validated with skeletal muscle morphology, immunofluorescence studies and western blot analysis. Proteomic profiling identified 538 significantly upregulated and 16 significantly downregulated proteins in quadriceps muscles derived from Pompe animals compared to wildtype mice. The majority of significantly upregulated proteins were involved in metabolism, translation, folding, degrading and vesicular transport, with some having crucial roles in the etiopathology of other neurological or neuromuscular diseases. This study highlights the importance of the early diagnosis and treatment of Pompe disease and suggests potential add-on therapeutic strategies targeting protein dysregulations. Full article
(This article belongs to the Special Issue Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets)
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Review

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14 pages, 1556 KiB  
Review
MuSK Myasthenia Gravis—Potential Pathomechanisms and Treatment Directed against Specific Targets
by Edyta Dziadkowiak, Dagmara Baczyńska and Marta Waliszewska-Prosół
Cells 2024, 13(6), 556; https://doi.org/10.3390/cells13060556 - 21 Mar 2024
Cited by 3 | Viewed by 5707
Abstract
Myasthenia gravis (MG) is an autoimmune disease in which autoantibodies target structures within the neuromuscular junction, affecting neuromuscular transmission. Muscle-specific tyrosine kinase receptor-associated MG (MuSK-MG) is a rare, often more severe, subtype of the disease with different pathogenesis and specific clinical features. It [...] Read more.
Myasthenia gravis (MG) is an autoimmune disease in which autoantibodies target structures within the neuromuscular junction, affecting neuromuscular transmission. Muscle-specific tyrosine kinase receptor-associated MG (MuSK-MG) is a rare, often more severe, subtype of the disease with different pathogenesis and specific clinical features. It is characterized by a more severe clinical course, more frequent complications, and often inadequate response to treatment. Here, we review the current state of knowledge about potential pathomechanisms of the MuSK-MG and their therapeutic implications as well as ongoing research in this field, with reference to key points of immune-mediated processes involved in the background of myasthenia gravis. Full article
(This article belongs to the Special Issue Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets)
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31 pages, 1691 KiB  
Review
Current Biomarker Strategies in Autoimmune Neuromuscular Diseases
by Menekse Oeztuerk, Antonia Henes, Christina B. Schroeter, Christopher Nelke, Paula Quint, Lukas Theissen, Sven G. Meuth and Tobias Ruck
Cells 2023, 12(20), 2456; https://doi.org/10.3390/cells12202456 - 15 Oct 2023
Cited by 8 | Viewed by 4040
Abstract
Inflammatory neuromuscular disorders encompass a diverse group of immune-mediated diseases with varying clinical manifestations and treatment responses. The identification of specific biomarkers has the potential to provide valuable insights into disease pathogenesis, aid in accurate diagnosis, predict disease course, and monitor treatment efficacy. [...] Read more.
Inflammatory neuromuscular disorders encompass a diverse group of immune-mediated diseases with varying clinical manifestations and treatment responses. The identification of specific biomarkers has the potential to provide valuable insights into disease pathogenesis, aid in accurate diagnosis, predict disease course, and monitor treatment efficacy. However, the rarity and heterogeneity of these disorders pose significant challenges in the identification and implementation of reliable biomarkers. Here, we aim to provide a comprehensive review of biomarkers currently established in Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), myasthenia gravis (MG), and idiopathic inflammatory myopathy (IIM). It highlights the existing biomarkers in these disorders, including diagnostic, prognostic, predictive and monitoring biomarkers, while emphasizing the unmet need for additional specific biomarkers. The limitations and challenges associated with the current biomarkers are discussed, and the potential implications for disease management and personalized treatment strategies are explored. Collectively, biomarkers have the potential to improve the management of inflammatory neuromuscular disorders. However, novel strategies and further research are needed to establish clinically meaningful biomarkers. Full article
(This article belongs to the Special Issue Spotlight on Neuromuscular Diseases: Pathomechanisms and New Therapeutic Targets)
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