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Molecular Mechanisms of Neuromuscular Disorders
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Molecular Mechanisms of Neuromuscular Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 October 2021) | Viewed by 10471

Special Issue Editors

Dr. Serenella Servidei

E-Mail Website
Guest Editor
1. Neurophysiopathology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
2. Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy
Interests: neuromuscular disorders; mitochondrial diseases; mitochondrial genetics; muscular dystrophies
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Alessandra Ferlini

E-Mail Website
Co-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. Guido Primiano

E-Mail Website
Co-Guest Editor
1. Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy
2. Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: neurogenetics; neurological diseases; neurodegeneration; clinical neurophysiology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neuromuscular diseases (NMDs) are a broadly defined group of rare disorders that affect all the components of the motor neuron–muscle axis. Inherited monogenic, metabolic, or acquired autoimmune pathologies of motor neurons, nerve, neuromuscular junction and muscles are included in this group.

Among the genetic disorders there is still a large percentage of undiagnosed patients. In fact, despite the employment of more readily available advance technologies, such as next-generation sequencing, many clinically defined and possibly genetic phenotypes still do not yet have an identified disease gene. Moreover, there is a wide range of genetic defects with similar clinical manifestations and vice versa heterogeneous phenotypes associated with changes in the same gene, implying that the molecular understanding of many NMDs is far from over. The complex interactions between genes, epigenetic, immune system, and environment are key elements both in genetic and autoimmune disorders. The increased understanding of diseases pathophysiology and drug technologies are dramatically changing treatment of both genetic and autoimmune NMDs. Lack of an accurate diagnosis precludes patients to access personalized therapies or trials enrollment and conflicts with the new therapeutic options that are or will soon be available. The purpose of this Special Issue “Molecular Mechanisms of Neuromuscular Disorders” is to host research articles and reviews focusing on molecular understanding and clinical and genetic characterization of neuromuscular disorders in the perspective of personalized medicine. With this focus in mind, we encourage manuscripts on muscular dystrophies and myopathies, mitochondrial diseases, neuropathies, inflammatory myopathies, neuromuscular junction, and motor neuron diseases.

Prof. Serenella Servidei
Guest Editor
Prof. Alessandra Ferlini
Dr. Guido Alessandro Primiano
Co-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. Genes 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 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

  • neuromuscular disorders
  • muscular dystrophies
  • mitochondrial diseases
  • neuropathies
  • neuromuscular junction diseases
  • motor neuron diseases
  • myopathies
  • inflammatory myopathies

Published Papers (4 papers)

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Research

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7 pages, 1132 KiB  
Article
Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
by Guido Primiano, Tommaso Verdolotti, Gabriella D’Apolito, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Gabriele Lucioli, Marco Luigetti and Serenella Servidei
Genes 2021, 12(11), 1786; https://doi.org/10.3390/genes12111786 - 11 Nov 2021
Cited by 7 | Viewed by 1342
Abstract
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of [...] Read more.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Neuromuscular Disorders)
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12 pages, 2716 KiB  
Article
Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers
by Angelo Maria Minnella, Roberta Rissotto, Martina Maceroni, Angela Romano, Romina Fasciani, Marco Luigetti, Mario Sabatelli, Stanislao Rizzo and Benedetto Falsini
Genes 2021, 12(6), 927; https://doi.org/10.3390/genes12060927 - 18 Jun 2021
Cited by 10 | Viewed by 2020
Abstract
Hereditary transthyretin amyloidosis (hATTR) is a rare disease caused by a point mutation in the transthyretin (TTR) gene and inherited in an autosomal dominant fashion. TTR is a plasma protein that functions as a carrier for thyroxine (T4) and retinol (vitamin A). Ophthalmological [...] Read more.
Hereditary transthyretin amyloidosis (hATTR) is a rare disease caused by a point mutation in the transthyretin (TTR) gene and inherited in an autosomal dominant fashion. TTR is a plasma protein that functions as a carrier for thyroxine (T4) and retinol (vitamin A). Ophthalmological manifestations are due to both the hepatic and ocular production of mutated TTR. In this case series, we report the ocular manifestations of hATTR in eighteen eyes of nine consecutive patients. Corneal nerve abnormalities as well as morphological and functional changes in the retina were investigated. The study was a single-center, retrospective, observational, clinical case series. In all patients, corneal confocal microscopy (CCM), multimodal imaging of the retina, including fundus photography and Optical Coherence Tomography (OCT), as well as rod and cone electroretinography (ERG) were performed. Eight patients had active disease and one was an unaffected carrier. In all study eyes, corneal nerve plexa examined with CCM were poorly represented or absent. Mixed rod-cone and cone ERG b-wave amplitudes were reduced, and photopic b-wave responses were significantly delayed. Photopic Negative Response (PhNR) amplitude was significantly reduced, while PhNR latency was significantly augmented. In 13/18 eyes, vitreous opacities and abnormalities of vitreo-retinal interface were found. The current results highlight the presence of corneal nerve damage. Functional retinal abnormalities, detected by ERG, can be found even in the presence of minimal or absent structural retinal damage. These findings support the use of CCM and ERGs to detect early biomarkers for primary hATTR. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Neuromuscular Disorders)
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Review

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26 pages, 4558 KiB  
Review
Ocular Involvement in Hereditary Amyloidosis
by Angelo Maria Minnella, Roberta Rissotto, Elena Antoniazzi, Marco Di Girolamo, Marco Luigetti, Martina Maceroni, Daniela Bacherini, Benedetto Falsini, Stanislao Rizzo and Laura Obici
Genes 2021, 12(7), 955; https://doi.org/10.3390/genes12070955 - 22 Jun 2021
Cited by 35 | Viewed by 4360
Abstract
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. [...] Read more.
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells. ATTRv amyloidosis may be misdiagnosed with several other conditions, resulting in a significant diagnostic delay. Gelsolin and keratoepithelin are other proteins that, when mutated, are responsible for a systemic amyloid disease with significant ocular manifestations that not infrequently appear before systemic involvement. The main signs of ocular amyloid deposition are in the cornea, irido-corneal angle and vitreous, causing complications related to vasculopathy and neuropathy at the local level. This review aims at describing the main biochemical, histopathological and clinical features of systemic amyloidosis associated with eye involvement, with particular emphasis on the inherited forms. We discuss currently available treatments, focusing on ocular involvement and specific ophthalmologic management and highlighting the importance of a prompt treatment for the potential sight-threatening complications derived from amyloid deposition in ocular tissues. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Neuromuscular Disorders)
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Other

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6 pages, 539 KiB  
Brief Report
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
by Marco Luigetti, Valeria Guglielmino, Giovanni Antonini, Carlo Casali, Marco Ceccanti, Maria Grazia Chiappini, Laura De Giglio, Vincenzo Di Lazzaro, Antonio Di Muzio, Mariangela Goglia, Maurizio Inghilleri, Luca Leonardi, Roberto Massa, Elena Maria Pennisi, Antonio Petrucci, Emanuela Proietti, Marianna Rispoli, Mario Sabatelli and Marco Di Girolamo
Genes 2021, 12(6), 829; https://doi.org/10.3390/genes12060829 - 28 May 2021
Cited by 9 | Viewed by 2115
Abstract
Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv amyloidosis Italian Registry. However, values of prevalence were extremely heterogeneous, considering different regions. To properly establish the prevalence of the disease in the Lazio region, [...] Read more.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv amyloidosis Italian Registry. However, values of prevalence were extremely heterogeneous, considering different regions. To properly establish the prevalence of the disease in the Lazio region, a survey was sent to university regional hospitals and to main regional hospitals, in order to collect all affected patients regularly followed. We identified 100 ATTRv patients and, considering a Lazio population of 5.8/million, we estimated a ATTRv prevalence of 17.2/million. The ATTRv amyloidosis Italian Registry reported a prevalence of 8.0/million in Lazio, while our survey showed a value of double this. Our survey documented a high-prevalence for a non-endemic country. The increased awareness of the disease among general practitioners and medical specialists is a fundamental step to reduce the diagnostic delay and start an effective treatment of this disease. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Neuromuscular Disorders)
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