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Cells
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Motor Neuron Diseases: From Molecular Basic Research to Diagnosis and...
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Motor Neuron Diseases: From Molecular Basic Research to Diagnosis and Therapeutics Implications

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

Deadline for manuscript submissions: 28 February 2025 | Viewed by 590

Special Issue Editors

Dr. Ilaria Martinelli

E-Mail Website
Guest Editor
1. Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
2. Clinical and Experimental Medicine Ph.D. Program, University of Modena and Reggio Emilia, 41125 Modena, Italy
Interests: neurodegenerative disorders; biomarkers; amyotrophic lateral sclerosis; genetics; clinical trials
Dr. Elisabetta Zucchi

E-Mail Website
Guest Editor
1. Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
2. Department of Neurosciences, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy
Interests: neurodegenerative disorders; amyotrophic lateral sclerosis; biomarkers; genetics; clinical trials; epidemiology

Special Issue Information

Dear Colleagues,

Motor neuron diseases are a heterogeneous group of disorders that are implicated in the relentless degeneration of the motor system, leading to upper and lower motor neuron excitotoxicity, muscle atrophy, paralysis and finally death. Despite intensive molecular and clinical research, their etiology remains largely unclear. Recent advancements in molecular biology and genetics have provided valuable insights into the pathogenesis of motor neuron diseases, paving the way for the development of targeted therapies that aim to slow or control the key causative processes.

Several mechanisms common to motor neuron disorders have been identified; these include excitotoxicity; abnormal intracellular and mitochondrial metabolism caused by the accumulation of oxidative species; a disturbed protein quality control system caused by the accumulation of misfolded proteins, RNA toxicity, or translational byproducts; dysfunctional autophagic machinery; and secondary As advances are made in understanding critical aspects of the underlying molecular pathophysiology, therapeutic strategies continue to evolve.

In this Special Issue, we aim to collect new findings addressing the etiology and diagnosis of motor neuron diseases, including the search for neuroprotective compounds and reliable biomarkers. Contributions related to motor neuron diseases are welcome, including original research articles and reviews.

Dr. Ilaria Martinelli
Dr. Elisabetta Zucchi
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. 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

  • motor neuron
  • genetics
  • oxidative stress
  • misfolded protein aggregates
  • biomarkers
  • gene therapy

Published Papers (1 paper)

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Research

13 pages, 3095 KiB  
Article
Overexpression of Toxic Poly(Glycine-Alanine) Aggregates in Primary Neuronal Cultures Induces Time-Dependent Autophagic and Synaptic Alterations but Subtle Activity Impairments
by Christina Steffke, Shreya Agarwal, Edor Kabashi and Alberto Catanese
Cells 2024, 13(15), 1300; https://doi.org/10.3390/cells13151300 - 3 Aug 2024
Viewed by 297
Abstract
The pathogenic expansion of the intronic GGGGCC hexanucleotide located in the non-coding region of the C9orf72 gene represents the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation leads to the accumulation of toxic RNA foci and [...] Read more.
The pathogenic expansion of the intronic GGGGCC hexanucleotide located in the non-coding region of the C9orf72 gene represents the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation leads to the accumulation of toxic RNA foci and dipeptide repeats (DPRs), as well as reduced levels of the C9orf72 protein. Thus, both gain and loss of function are coexisting pathogenic aspects linked to C9orf72-ALS/FTD. Synaptic alterations have been largely described in C9orf72 models, but it is still not clear which aspect of the pathology mostly contributes to these impairments. To address this question, we investigated the dynamic changes occurring over time at the synapse upon accumulation of poly(GA), the most abundant DPR. Overexpression of this toxic form induced a drastic loss of synaptic proteins in primary neuron cultures, anticipating autophagic defects. Surprisingly, the dramatic impairment characterizing the synaptic proteome was not fully matched by changes in network properties. In fact, high-density multi-electrode array analysis highlighted only minor reductions in the spike number and firing rate of poly(GA) neurons. Our data show that the toxic gain of function linked to C9orf72 affects the synaptic proteome but exerts only minor effects on the network activity. Full article
(This article belongs to the Special Issue Motor Neuron Diseases: From Molecular Basic Research to Diagnosis and Therapeutics Implications)
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