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Molecular Pathology and Treatment of Neuromuscular Disease
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Molecular Pathology and Treatment of Neuromuscular Disease

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: 30 May 2024 | Viewed by 1276

Special Issue Editors

Dr. Christopher Nelke

E-Mail Website
Guest Editor
Department of Neurology, Medical Faculty, Heinrich-Heine University, Moorenstraße 5, 40225 Düsseldorf, Germany
Interests: complements; myasthenia gravis; myositis; complement inhibition; neuromuscular junction; neuromuscular disease
Dr. Christina B. Schroeter

E-Mail Website
Guest Editor
Department of Neurology, Medical Faculty, Heinrich-Heine University, Moorenstraße 5, 40225 Düsseldorf, Germany
Interests: proteomics; neuromuscular disorders; biomarker discovery; neuroinflammation

Special Issue Information

Dear Colleagues,

This Special Issue entitled ‘Molecular Pathology and Treatment of Neuromuscular Disease’ delves into the intricate molecular mechanisms underlying neuromuscular pathologies and explores current scientific strategies. This compilation of articles aims to provide a comprehensive overview of current research trends and approaches, and molecular findings relevant to the neuromuscular system. Contributions feature advancements in molecular pathology, highlighting genetic factors, molecular markers, and cellular processes implicated in neuromuscular diseases. By fostering a deeper understanding of the molecular landscape, this Special Issue aims to accelerate the development of personalized and effective treatments, providing current insights for researchers, clinicians, and healthcare professionals dedicated to neuromuscular disorders.

Dr. Christopher Nelke
Dr. Christina B. Schroeter
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

  • complements
  • myasthenia gravis
  • neuromuscular diseases
  • neuromuscular junction
  • hereditary disorders
  • amyotrophic lateral sclerosis
  • personalized treatments

Published Papers (1 paper)

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Research

18 pages, 3214 KiB  
Article
NLRP3 Contributes to Sarcopenia Associated to Dependency Recapitulating Inflammatory-Associated Muscle Degeneration
by Eduardo Antuña, Yaiza Potes, Francisco Javier Baena-Huerta, Cristina Cachán-Vega, Nerea Menéndez-Coto, Eva Álvarez Darriba, Marta Fernández-Fernández, Natalie Burgos Bencosme, Manuel Bermúdez, Eva María López Álvarez, José Gutiérrez-Rodríguez, José Antonio Boga, Beatriz Caballero, Ignacio Vega-Naredo, Ana Coto-Montes and Claudia Garcia-Gonzalez
Int. J. Mol. Sci. 2024, 25(3), 1439; https://doi.org/10.3390/ijms25031439 - 24 Jan 2024
Viewed by 1112
Abstract
Sarcopenia, a complex and debilitating condition characterized by progressive deterioration of skeletal muscle, is the primary cause of age-associated disability and significantly impacts healthspan in elderly patients. Despite its prevalence among the aging population, the underlying molecular mechanisms are still under investigation. The [...] Read more.
Sarcopenia, a complex and debilitating condition characterized by progressive deterioration of skeletal muscle, is the primary cause of age-associated disability and significantly impacts healthspan in elderly patients. Despite its prevalence among the aging population, the underlying molecular mechanisms are still under investigation. The NLRP3 inflammasome is crucial in the innate immune response and has a significant impact on diseases related to inflammation and aging. Here, we investigated the expression of the NLRP3 inflammasome pathway and pro-inflammatory cytokines in skeletal muscle and peripheral blood of dependent and independent patients who underwent hip surgery. Patients were categorized into independent and dependent individuals based on their Barthel Index. The expression of NLRP3 inflammasome components was significantly upregulated in sarcopenic muscle from dependent patients, accompanied by higher levels of Caspase-1, IL-1β and IL-6. Among older dependent individuals with sarcopenia, there was a significant increase in the MYH3/MYH2 ratio, indicating a transcriptional shift in expression from mature to developmental myosin isoforms. Creatine kinase levels and senescence markers were also higher in dependent patients, altogether resembling dystrophic diseases and indicating muscle degeneration. In summary, we present evidence for the involvement of the NLRP3/ASC/NEK7/Caspase-1 inflammasome pathway with activation of pro-inflammatory SASP in the outcome of sarcopenia in the elderly. Full article
(This article belongs to the Special Issue Molecular Pathology and Treatment of Neuromuscular Disease)
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