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Pharmaceuticals
Special Issues
Neuromuscular Disorders: Current Gene and Cell Therapeutic Approaches
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Neuromuscular Disorders: Current Gene and Cell Therapeutic Approaches

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Biopharmaceuticals".

Deadline for manuscript submissions: 15 September 2024 | Viewed by 12762

Special Issue Editors

Prof. Dr. Leonidas A. Phylactou

E-Mail Website
Guest Editor
Chief Executive Officer and Medical Director, The Cyprus Institute of Neurology & Genetics, PO Box 23462, Nicosia 1683, Cyprus
Interests: RNA biology; regulatory RNA molecules; extracellular vesicles; identification of genetic defects in inherited diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Andrie Koutsoulidou

E-Mail Website
Guest Editor
Department of Molecular Genetics, The Cyprus Institute of Neurology& Genetics, PO Box 23462, Nicosia 1683, Cyprus
Interests: muscular dystrophies; gene therapy; biomarkers; miRNAs
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neuromuscular disorders are a heterogenic group of diseases affecting the muscular system or the peripheral nervous system. Some of these conditions are also associated with the central nervous system, such as amyotrophic lateral sclerosis (ALS). Neuromuscular disorders are predominantly characterized by progressive muscle weakness. Currently, no therapeutic treatments have been identified for any of these disorders. The high heterogeneity with respect to clinical severity, the cause of the disease, and the primary cell type that is affected (e.g., motor neurons, skeletal muscle, and Schwann cells) are considered the main challenges for the development of a successful therapeutic strategy for this group of disorders. However, in recent years, research into therapy development for neuromuscular disorders has made remarkable progress. Innovative therapeutic approaches have been applied to specific neuromuscular diseases with encouraging results.

This Special Issue will cover the recent progress in developing therapeutic and diagnostic strategies for neuromuscular disorders through a series of original research articles and reviews from experts in the field. Therapeutic approaches involving the use of nucleic acid oligonucleotides such as antisense oligonucleotides and miRNAs, biopharmaceutical compounds, genome editing, and different delivery tools including viral vectors and nanoparticles will be highlighted in this Special Issue.

Prof. Dr. Leonidas A. Phylactou
Dr. Andrie Koutsoulidou
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. Pharmaceuticals 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 2900 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

  • Muscular dystrophies
  • Motor neuron diseases
  • Myopathies
  • Cell-based therapy
  • Gene therapy
  • Antisense oligonucleotides
  • miRNAs
  • Pharmacological strategies
  • Stem cells
  • Viral vectors
  • Nanoparticles

Published Papers (3 papers)

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Research

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18 pages, 3400 KiB  
Article
Intramuscular Evaluation of Chimeric Locked Nucleic Acid/2′OMethyl-Modified Antisense Oligonucleotides for Targeted Exon 23 Skipping in Mdx Mice
by Michaella Georgiadou, Melina Christou, Kleitos Sokratous, Jesper Wengel, Kyriaki Michailidou, Kyriacos Kyriacou, Andrie Koutsoulidou, Nikolaos P. Mastroyiannopoulos and Leonidas A. Phylactou
Pharmaceuticals 2021, 14(11), 1113; https://doi.org/10.3390/ph14111113 - 30 Oct 2021
Viewed by 2518
Abstract
Duchenne muscular dystrophy (DMD) is a fatal disorder characterised by progressive muscle wasting. It is caused by mutations in the dystrophin gene, which disrupt the open reading frame leading to the loss of functional dystrophin protein in muscle fibres. Antisense oligonucleotide (AON)-mediated skipping [...] Read more.
Duchenne muscular dystrophy (DMD) is a fatal disorder characterised by progressive muscle wasting. It is caused by mutations in the dystrophin gene, which disrupt the open reading frame leading to the loss of functional dystrophin protein in muscle fibres. Antisense oligonucleotide (AON)-mediated skipping of the mutated exon, which allows production of a truncated but partially functional dystrophin protein, has been at the forefront of DMD therapeutic research for over two decades. Nonetheless, novel nucleic acid modifications and AON designs are continuously being developed to improve the clinical benefit profile of current drugs in the DMD pipeline. We herein designed a series of 15mer and 20mer AONs, consisting of 2′O-Methyl (2′OMe)- and locked nucleic acid (LNA)-modified nucleotides in different percentage compositions, and assessed their efficiency in inducing exon 23 skipping and dystrophin restoration in locally injected muscles of mdx mice. We demonstrate that LNA/2′OMe AONs with a 30% LNA composition were significantly more potent in inducing exon skipping and dystrophin restoration in treated mdx muscles, compared to a previously tested 2′OMe AON and LNA/2′OMe chimeras with lower or higher LNA compositions. These results underscore the therapeutic potential of LNA/2′OMe AONs, paving the way for further experimentation to evaluate their benefit-toxicity profile following systemic delivery. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Current Gene and Cell Therapeutic Approaches)
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Review

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19 pages, 1060 KiB  
Review
Stem Cell Models and Gene Targeting for Human Motor Neuron Diseases
by Yashashree Karpe, Zhenyu Chen and Xue-Jun Li
Pharmaceuticals 2021, 14(6), 565; https://doi.org/10.3390/ph14060565 - 12 Jun 2021
Cited by 6 | Viewed by 3884
Abstract
Motor neurons are large projection neurons classified into upper and lower motor neurons responsible for controlling the movement of muscles. Degeneration of motor neurons results in progressive muscle weakness, which underlies several debilitating neurological disorders including amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegias [...] Read more.
Motor neurons are large projection neurons classified into upper and lower motor neurons responsible for controlling the movement of muscles. Degeneration of motor neurons results in progressive muscle weakness, which underlies several debilitating neurological disorders including amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegias (HSP), and spinal muscular atrophy (SMA). With the development of induced pluripotent stem cell (iPSC) technology, human iPSCs can be derived from patients and further differentiated into motor neurons. Motor neuron disease models can also be generated by genetically modifying human pluripotent stem cells. The efficiency of gene targeting in human cells had been very low, but is greatly improved with recent gene editing technologies such as zinc-finger nucleases (ZFN), transcription activator-like effector nucleases (TALEN), and CRISPR-Cas9. The combination of human stem cell-based models and gene editing tools provides unique paradigms to dissect pathogenic mechanisms and to explore therapeutics for these devastating diseases. Owing to the critical role of several genes in the etiology of motor neuron diseases, targeted gene therapies have been developed, including antisense oligonucleotides, viral-based gene delivery, and in situ gene editing. This review summarizes recent advancements in these areas and discusses future challenges toward the development of transformative medicines for motor neuron diseases. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Current Gene and Cell Therapeutic Approaches)
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Other

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38 pages, 15698 KiB  
Systematic Review
Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
by Sze Yuen Lew, Michael Weng Lok Phang, Pit Shan Chong, Jaydeep Roy, Chi Him Poon, Wing Shan Yu, Lee Wei Lim and Kah Hui Wong
Pharmaceuticals 2022, 15(6), 764; https://doi.org/10.3390/ph15060764 - 19 Jun 2022
Cited by 7 | Viewed by 5134
Abstract
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of rare neurodegenerative inherited disorders. The resulting motor incoordination and progressive functional disabilities lead to reduced lifespan. There is currently no cure for ARCAs, likely attributed to the lack of understanding of the multifaceted [...] Read more.
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of rare neurodegenerative inherited disorders. The resulting motor incoordination and progressive functional disabilities lead to reduced lifespan. There is currently no cure for ARCAs, likely attributed to the lack of understanding of the multifaceted roles of antioxidant defense and the underlying mechanisms. This systematic review aims to evaluate the extant literature on the current developments of therapeutic strategies that target oxidative stress for the management of ARCAs. We searched PubMed, Web of Science, and Science Direct Scopus for relevant peer-reviewed articles published from 1 January 2016 onwards. A total of 28 preclinical studies fulfilled the eligibility criteria for inclusion in this systematic review. We first evaluated the altered cellular processes, abnormal signaling cascades, and disrupted protein quality control underlying the pathogenesis of ARCA. We then examined the current potential therapeutic strategies for ARCAs, including aromatic, organic and pharmacological compounds, gene therapy, natural products, and nanotechnology, as well as their associated antioxidant pathways and modes of action. We then discussed their potential as antioxidant therapeutics for ARCAs, with the long-term view toward their possible translation to clinical practice. In conclusion, our current understanding is that these antioxidant therapies show promise in improving or halting the progression of ARCAs. Tailoring the therapies to specific disease stages could greatly facilitate the management of ARCAs. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Current Gene and Cell Therapeutic Approaches)
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