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Hereditary Neuromuscular Diseases
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Hereditary Neuromuscular Diseases

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: closed (31 May 2019) | Viewed by 27936

Special Issue Editors

Prof. Dr. Alessandra Ferlini

E-Mail Website
Guest Editor
Unit of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy
Interests: neuromuscular disorders; genetics; muscular dystrophies
Special Issues, Collections and Topics in MDPI journals
Dr. Pietro Spitali

E-Mail Website
Guest Editor
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Interests: non-invasive biomarkers; splicing regulation via antisense oligonucleotides; ncRNAs and accurate quantification of transcripts

Special Issue Information

Dear Colleagues,

Hereditary Neuromuscular diseases (NMDs) are a class of rare disorders affecting both paediatric and adult patients. Muscle function is affected in these patients as a consequence of direct or indirect pathologic mechanisms that can affect muscle fibers as well as motoneurons and the neuromuscular junction.

In this issue, we want to provide an overview of NMDs ranging from the genetic cause to the characterization of natural history, disease pathogenesis, and new therapies. The characterization of NMDs has, in fact, recently moved to a new stage in which outcome measures have been developed and evaluated in order to provide a meaningful tool box to drug developers to test innovative drugs in interventional clinical trials. Ongoing new therapies including RNA modulation will be in focus. This issue will also cover new advances in preclinical therapeutic strategies ranging from the establishment of ex vivo proof of principle studies using muscle-derived stem cells to the delivery of specific drugs to skeletal muscles, and from gene editing to gene therapy.

Prof. Alessandra Ferlini
Dr. Pietro Spitali
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. Journal of Clinical Medicine 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 2600 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

  • Rare diseases
  • genetic diseases
  • muscle stem cells
  • drug delivery

Published Papers (4 papers)

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Review

23 pages, 653 KiB  
Review
The “Usual Suspects”: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy
by Luca Bello and Elena Pegoraro
J. Clin. Med. 2019, 8(5), 649; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm8050649 - 10 May 2019
Cited by 49 | Viewed by 5405
Abstract
Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite homogeneous with regards to its causative biochemical defect, i.e., complete dystrophin deficiency, but not so much with regards to its phenotype. For instance, muscle weakness progresses to the loss of independent [...] Read more.
Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite homogeneous with regards to its causative biochemical defect, i.e., complete dystrophin deficiency, but not so much with regards to its phenotype. For instance, muscle weakness progresses to the loss of independent ambulation at a variable age, starting from before 10 years, to even after 16 years (with glucocorticoid treatment). Identifying the bases of such variability is relevant for patient counseling, prognosis, stratification in trials, and identification of therapeutic targets. To date, variants in five loci have been associated with variability in human DMD sub-phenotypes: SPP1, LTBP4, CD40, ACTN3, and THBS1. Four of these genes (SPP1, LTBP4, CD40, and THBS1) are implicated in several interconnected molecular pathways regulating inflammatory response to muscle damage, regeneration, and fibrosis; while ACTN3 is known as “the gene for speed”, as it contains a common truncating polymorphism (18% of the general population), which reduces muscle power and sprint performance. Studies leading to the identification of these modifiers were mostly based on a “candidate gene” approach, hence the identification of modifiers in “usual suspect” pathways, which are already known to modify muscle in disease or health. Unbiased approaches that are based on genome mapping have so far been applied only initially, but they will probably represent the focus of future developments in this field, and will hopefully identify novel, “unsuspected” therapeutic targets. In this article, we summarize the state of the art of modifier loci of human dystrophin deficiency, and attempt to assess their relevance and implications on both clinical management and translational research. Full article
(This article belongs to the Special Issue Hereditary Neuromuscular Diseases)
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10 pages, 1305 KiB  
Review
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature
by Maria Sofia Falzarano and Alessandra Ferlini
J. Clin. Med. 2019, 8(5), 627; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm8050627 - 08 May 2019
Cited by 19 | Viewed by 9169
Abstract
Urine specimens represent a novel and non-invasive approach to isolate patient-specific stem cells by easy and low-cost procedures, replacing the traditional sources (muscle/skin biopsy/adipose tissue) obtained with invasive and time-consuming methods. Urine-derived stem cells (USCs) can be used in a broad field of [...] Read more.
Urine specimens represent a novel and non-invasive approach to isolate patient-specific stem cells by easy and low-cost procedures, replacing the traditional sources (muscle/skin biopsy/adipose tissue) obtained with invasive and time-consuming methods. Urine-derived stem cells (USCs) can be used in a broad field of applications, such as regenerative medicine, cell therapy, diagnostic testing, disease modelling and drug screening. USCs are a good source of cells for generating induced pluripotent stem cells (iPSCs) and importantly, they can also be directly converted into specific cell lines. In this review, we show the features of USCs and their use as a promising in vitro model to study genetic diseases. Full article
(This article belongs to the Special Issue Hereditary Neuromuscular Diseases)
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36 pages, 1740 KiB  
Review
Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine
by Domenico D’Amario, Aoife Gowran, Francesco Canonico, Elisa Castiglioni, Davide Rovina, Rosaria Santoro, Pietro Spinelli, Rachele Adorisio, Antonio Amodeo, Gianluca Lorenzo Perrucci, Josip A. Borovac, Giulio Pompilio and Filippo Crea
J. Clin. Med. 2018, 7(9), 291; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm7090291 - 19 Sep 2018
Cited by 25 | Viewed by 6422
Abstract
Duchenne’s muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, [...] Read more.
Duchenne’s muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options. Full article
(This article belongs to the Special Issue Hereditary Neuromuscular Diseases)
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8 pages, 221 KiB  
Review
New Directions for SMA Therapy
by Sonia Messina
J. Clin. Med. 2018, 7(9), 251; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm7090251 - 31 Aug 2018
Cited by 23 | Viewed by 6096
Abstract
Spinal muscular atrophy (SMA) is a severe disorder of motor neurons and the most frequent genetic cause of mortality in childhood, due to respiratory complications. The disease occurs due to mutations in the survival motor neuron 1 (SMN1) gene that leads to a [...] Read more.
Spinal muscular atrophy (SMA) is a severe disorder of motor neurons and the most frequent genetic cause of mortality in childhood, due to respiratory complications. The disease occurs due to mutations in the survival motor neuron 1 (SMN1) gene that leads to a reduction in the SMN protein, causing degeneration of lower motor neurons, muscle weakness and atrophy. Recently, the Food and Drug Administration (FDA) and the European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first disease-modifying treatment for SMA. Encouraging results from SMN1 gene therapy studies have raised hope for other therapeutic approaches that might arise in the coming years. However, nusinersen licensing has created ethical, medical, and financial implications that will need to be addressed. In this review, the history and challenges of the new SMA therapeutic strategies are highlighted. Full article
(This article belongs to the Special Issue Hereditary Neuromuscular Diseases)
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