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Molecular Study and Treatment of Motor Neuron Diseases
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Molecular Study and Treatment of Motor Neuron Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 20 August 2025 | Viewed by 7174

Special Issue Editors

Dr. Simona Rossi

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Guest Editor
CNR-Istituto di Farmacologia Traslazionale, 00133 Rome, Italy
Interests: neurodegeneration; amyotrophic lateral sclerosis; RNA metabolism; RNA-binding proteins; stress response; spinal muscular atrophy; repeat expansion disorders, antisense oligonucleotides
Dr. Savina Apolloni

E-Mail Website
Guest Editor
Department of Biology, Tor Vergata University of Rome, 00133 Rome, Italy
Interests: molecular mechanisms of neurodegeneration; amyotrophic lateral sclerosis; neuroinflammation; microglia; fibrosis; astrocytes; animal models of neurodegenerative diseases; purinergic signaling; histaminergic signaling; neuropharmacology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Motor neuron diseases (MNDs) are a group of progressive neurological disorders in which motor neurons undergo degeneration and death. It includes diseases such as amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), spinal and bulbar muscular atrophy (SBMA), and post-polio syndrome.

Although recent progress in neurochemical, physiological, genetic investigations has led to the identification of several cellular processes that seem to be involved in the motor neuronal degeneration, certain questions about the pathogenic mechanisms of MNDs remain unknown. Comprehension of these underlying mechanisms is of paramount importance because it can play a crucial role in the research and development of novel therapeutic strategies.

This Special Issue invites submissions of original papers and review articles that highlight the latest discoveries and advancements in the field of pathophysiological mechanisms, biomarker research and novel therapeutic targets in MND.

Dr. Simona Rossi
Dr. Savina Apolloni
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 Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • motor neuron
  • amyotrophic lateral sclerosis
  • neuronal degeneration
  • pathogenic mechanisms
  • molecular therapy

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Published Papers (3 papers)

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Research

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14 pages, 1551 KiB  
Article
Impact of Disease Severity and Disease-Modifying Therapies on Myostatin Levels in SMA Patients
by Laurane Mackels, Virginie Mariot, Laura Buscemi, Laurent Servais and Julie Dumonceaux
Int. J. Mol. Sci. 2024, 25(16), 8763; https://doi.org/10.3390/ijms25168763 - 12 Aug 2024
Cited by 3 | Viewed by 1670
Abstract
Clinical trials with treatments inhibiting myostatin pathways to increase muscle mass are currently ongoing in spinal muscular atrophy. Given evidence of potential myostatin pathway downregulation in Spinal Muscular Atrophy (SMA), restoring sufficient myostatin levels using disease-modifying treatments (DMTs) might arguably be necessary prior [...] Read more.
Clinical trials with treatments inhibiting myostatin pathways to increase muscle mass are currently ongoing in spinal muscular atrophy. Given evidence of potential myostatin pathway downregulation in Spinal Muscular Atrophy (SMA), restoring sufficient myostatin levels using disease-modifying treatments (DMTs) might arguably be necessary prior to considering myostatin inhibitors as an add-on treatment. This retrospective study assessed pre-treatment myostatin and follistatin levels’ correlation with disease severity and explored their alteration by disease-modifying treatment in SMA. We retrospectively collected clinical characteristics, motor scores, and mysotatin and follistatin levels between 2018 and 2020 in 25 Belgian patients with SMA (SMA1 (n = 13), SMA2 (n = 6), SMA 3 (n = 6)) and treated by nusinersen. Data were collected prior to treatment and after 2, 6, 10, 18, and 30 months of treatment. Myostatin levels correlated with patients’ age, weight, SMA type, and motor function before treatment initiation. After treatment, we observed correlations between myostatin levels and some motor function scores (i.e., MFM32, HFMSE, 6MWT), but no major effect of nusinersen on myostatin or follistatin levels over time. In conclusion, further research is needed to determine if DMTs can impact myostatin and follistatin levels in SMA, and how this could potentially influence patient selection for ongoing myostatin inhibitor trials. Full article
(This article belongs to the Special Issue Molecular Study and Treatment of Motor Neuron Diseases)
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17 pages, 1964 KiB  
Article
A Potential Role of Interleukin-5 in the Pathogenesis and Progression of Amyotrophic Lateral Sclerosis: A New Molecular Perspective
by Anca Moțățăianu, Sebastian Andone, Adina Stoian, Rodica Bălașa, Adina Huțanu and Emanuela Sărmășan
Int. J. Mol. Sci. 2024, 25(7), 3782; https://doi.org/10.3390/ijms25073782 - 28 Mar 2024
Viewed by 1339
Abstract
Cumulative data suggest that neuroinflammation plays a prominent role in amyotrophic lateral sclerosis (ALS) pathogenesis. The purpose of this work was to assess if patients with ALS present a specific peripheral cytokine profile and if it correlates with neurological disability assessed by ALSFRS-R, [...] Read more.
Cumulative data suggest that neuroinflammation plays a prominent role in amyotrophic lateral sclerosis (ALS) pathogenesis. The purpose of this work was to assess if patients with ALS present a specific peripheral cytokine profile and if it correlates with neurological disability assessed by ALSFRS-R, the rate of disease progression, and the pattern of disease progression (horizontal spreading [HSP] versus vertical spreading [VSP]). We determined the levels of 15 cytokines in the blood of 59 patients with ALS and 40 controls. We identified a positive correlation between levels of pro-inflammatory cytokines (interleukin [IL]-17F, IL-33, IL-31) and the age of ALS patients, as well as a positive correlation between IL-12p/70 and survival from ALS onset and ALS diagnosis. Additionally, there was a positive correlation between the ALSFRS-R score in the upper limb and respiratory domain and IL-5 levels. In our ALS cohort, the spreading pattern was 42% horizontal and 58% vertical, with patients with VSP showing a faster rate of ALS progression. Furthermore, we identified a negative correlation between IL-5 levels and the rate of disease progression, as well as a positive correlation between IL-5 and HSP of ALS. To the best of our knowledge, this is the first study reporting a “protective” role of IL-5 in ALS. Full article
(This article belongs to the Special Issue Molecular Study and Treatment of Motor Neuron Diseases)
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Review

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20 pages, 3455 KiB  
Review
Taldefgrobep Alfa and the Phase 3 RESILIENT Trial in Spinal Muscular Atrophy
by Laurent Servais, Lindsey Lee Lair, Anne M. Connolly, Barry J. Byrne, Karen S. Chen, Vlad Coric, Irfan Qureshi, Susan Durham, Daniel J. Campbell, Grant Maclaine, Jackie Marin and Clifford Bechtold
Int. J. Mol. Sci. 2024, 25(19), 10273; https://doi.org/10.3390/ijms251910273 - 24 Sep 2024
Cited by 1 | Viewed by 3210
Abstract
Spinal muscular atrophy (SMA) is a rare, genetic neurodegenerative disorder caused by insufficient production of survival motor neuron (SMN) protein. Diminished SMN protein levels lead to motor neuron loss, causing muscle atrophy and weakness that impairs daily functioning and reduces quality of life. [...] Read more.
Spinal muscular atrophy (SMA) is a rare, genetic neurodegenerative disorder caused by insufficient production of survival motor neuron (SMN) protein. Diminished SMN protein levels lead to motor neuron loss, causing muscle atrophy and weakness that impairs daily functioning and reduces quality of life. SMN upregulators offer clinical improvements and increased survival in SMA patients, although significant unmet needs remain. Myostatin, a TGF-β superfamily signaling molecule that binds to the activin II receptor, negatively regulates muscle growth; myostatin inhibition is a promising therapeutic strategy for enhancing muscle. Combining myostatin inhibition with SMN upregulation, a comprehensive therapeutic strategy targeting the whole motor unit, offers promise in SMA. Taldefgrobep alfa is a novel, fully human recombinant protein that selectively binds to myostatin and competitively inhibits other ligands that signal through the activin II receptor. Given a robust scientific and clinical rationale and the favorable safety profile of taldefgrobep in patients with neuromuscular disease, the RESILIENT phase 3, randomized, placebo-controlled trial is investigating taldefgrobep as an adjunct to SMN upregulators in SMA (NCT05337553). This manuscript reviews the role of myostatin in muscle, explores the preclinical and clinical development of taldefgrobep and introduces the phase 3 RESILIENT trial of taldefgrobep in SMA. Full article
(This article belongs to the Special Issue Molecular Study and Treatment of Motor Neuron Diseases)
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