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Genetics and Epigenetics of Neuromuscular Diseases
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Genetics and Epigenetics of Neuromuscular Diseases

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 August 2022) | Viewed by 19125

Special Issue Editor

Prof. Dr. Fabio Coppedè

E-Mail Website
Guest Editor
Department of Translational Research and new Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy
Interests: folate metabolism; polymorphisms of folate-related genes; medical genetics; epigenetics; DNA methylation; DNA repair
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neuromuscular disorders (NMDs) include several hereditary or acquired conditions that impair the neuromuscular system and the functioning of the muscles. These include, but are not limited to, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), hereditary muscular dystrophies and myopathies, peripheral neuropathies and the neuromuscular junction disorder myasthenia gravis. Together with the genetic factors contributing to neuromuscular impairment, increasing evidence points to a role for epigenetic modifications such as DNA methylation, histone tail modifications and non-coding RNA-mediated mechanisms.

This Special Issue aims to provide a detailed and updated overview of the genetics and epigenetics of NMDs. Indeed, we aim to collect cutting-edge basic research articles aimed at identifying genetic and epigenetic biomarkers of these disorders, as well as updated narrative reviews on a given disease or a disease category. Genome-wide (GWAS) and epigenome-wide association studies (EWAS) and their systematic review and meta-analysis are particularly welcome. We are also interested in articles dealing with the application of the polygenic risk score in complex NMDs, such as sporadic ALS, and in the genotype–phenotype correlation in familial NMDs, as well as in papers addressing epigenetic biomarkers of these conditions. Studies in animal and cell culture models of these disorders are welcome, and papers dealing with the translational potential and the clinical utility of these biomarkers, including genome editing and miRNA-based therapeutic approaches, are also of interest.

Prof. Dr. Fabio Coppedè
Guest Editor

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Keywords

  • amyotrophic lateral sclerosis
  • DNA methylation
  • epigenetics
  • genetics
  • hereditary muscular dystrophies
  • miRNAs
  • peripheral neuropathies

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Published Papers (7 papers)

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Editorial

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3 pages, 196 KiB  
Editorial
Special Issue “Genetics and Epigenetics of Neuromuscular Diseases”
by Fabio Coppedè
Genes 2023, 14(8), 1522; https://doi.org/10.3390/genes14081522 - 26 Jul 2023
Viewed by 1063
Abstract
Neuromuscular disorders (NMDs) include several hereditary or acquired conditions that impair the neuromuscular system and muscle function [...] Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)

Research

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11 pages, 4899 KiB  
Article
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy
by Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum and Simone Rost
Genes 2022, 13(10), 1752; https://doi.org/10.3390/genes13101752 - 28 Sep 2022
Cited by 2 | Viewed by 2121
Abstract
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many [...] Read more.
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases, there is a strong suspicion that the cause must lie in unexplored gene areas, such as deep-intronic or other non-coding regions. In order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it possible to sequence entire genomes to reveal these previously uninvestigated regions. Here, we present a young woman who was strongly suspected of having a so far genetically unsolved sarcoglycanopathy based on her clinical history and muscle biopsy. Using short read whole genome sequencing (WGS), a homozygous inversion on chromosome 13 involving SGCG and LINC00621 was detected. The breakpoint in intron 2 of SGCG led to the absence of γ-sarcoglycan, resulting in the manifestation of autosomal recessive limb-girdle muscular dystrophy 5 (LGMDR5) in the young woman. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
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14 pages, 32770 KiB  
Article
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
by Na Young Jung, Hye Mi Kwon, Da Eun Nam, Nasrin Tamanna, Ah Jin Lee, Sang Beom Kim, Byung-Ok Choi and Ki Wha Chung
Genes 2022, 13(7), 1219; https://doi.org/10.3390/genes13071219 - 8 Jul 2022
Cited by 8 | Viewed by 3766
Abstract
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E [...] Read more.
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype–phenotype correlation in Korean CMT families. By the application of whole-exome sequencing (WES) and targeted gene panel sequencing (TS), we identified 14 pathogenic or likely pathogenic PMP22 mutations in 21 families out of 850 CMT families who were negative for 17p12 (PMP22) duplication. Most mutations were located in the well-conserved transmembrane domains. Of these, eight mutations were not reported in other populations. High frequencies of de novo mutations were observed, and the mutation sites of c.68C>G and c.215C>T were suggested as the mutational hotspots. Affected individuals showed an early onset-severe phenotype and late onset-mild phenotype, and more than 40% of the CMT1E patients showed hearing loss. Physical and electrophysiological symptoms of the CMT1E patients were more severely damaged than those of CMT1A while similar to CMT1B caused by MPZ mutations. Our results will be useful for the reference data of Korean CMT1E and the molecular diagnosis of CMT1 with or without hearing loss. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
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13 pages, 774 KiB  
Article
Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis
by Vanessa Nicolì, Silvia Maria Tabano, Patrizia Colapietro, Michelangelo Maestri, Roberta Ricciardi, Andrea Stoccoro, Laura Fontana, Melania Guida, Monica Miozzo, Fabio Coppedè and Lucia Migliore
Genes 2022, 13(4), 696; https://doi.org/10.3390/genes13040696 - 15 Apr 2022
Cited by 9 | Viewed by 3879
Abstract
Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by prevalence in young women (3:1). Several mechanisms proposed as explanations for gender bias, including skewed X chromosome inactivation (XCI) and dosage or sex hormones, are often involved in the development of autoimmunity. The [...] Read more.
Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by prevalence in young women (3:1). Several mechanisms proposed as explanations for gender bias, including skewed X chromosome inactivation (XCI) and dosage or sex hormones, are often involved in the development of autoimmunity. The skewed XCI pattern can lead to an unbalanced expression of some X-linked genes, as observed in several autoimmune disorders characterized by female predominance. No data are yet available regarding XCI and MG. We hypothesize that the preferential XCI pattern may contribute to the female bias observed in the onset of MG, especially among younger women. XCI analysis was performed on blood samples of 284 women between the ages of 20 and 82. XCI was tested using the Human Androgen Receptor Assay (HUMARA). XCI patterns were classified as random (XCI < 75%) and preferential (XCI ≥ 75%). In 121 informative patients, the frequency of skewed XCI patterns was 47%, significantly higher than in healthy controls (17%; p ≤ 0.00001). Interestingly, the phenomenon was observed mainly in younger patients (<45 years; p ≤ 0.00001). Furthermore, considering the XCI pattern and the other clinical characteristics of patients, no significant differences were found. In conclusion, we observed preferential XCI in MG female patients, suggesting its potential role in the aetiology of MG, as observed in other autoimmune diseases in women. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
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13 pages, 1957 KiB  
Article
Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea
by Si On Lim, Na Young Jung, Ah Jin Lee, Hee Ji Choi, Hye Mi Kwon, Wonseok Son, Soo Hyun Nam, Byung-Ok Choi and Ki Wha Chung
Genes 2022, 13(3), 462; https://doi.org/10.3390/genes13030462 - 5 Mar 2022
Cited by 5 | Viewed by 2273
Abstract
Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured proteins and protect cells from stress. Mutations in HSPB1, HSPB8, and HSPB3 are implicated in inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) [...] Read more.
Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured proteins and protect cells from stress. Mutations in HSPB1, HSPB8, and HSPB3 are implicated in inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathies (dHMN). This study, using whole exome sequencing or targeted gene sequencing, identified 9 pathogenic or likely pathogenic variants in these three sHSP genes from 11 Korean IPN families. Most variants were located in the evolutionally well conserved α-crystallin domain, except for p.P182S and p.S187L in HSPB1. As an atypical case, a patient with dHMN2 showed two compound heterozygous variants of p.R127Q and p.Y142H in HSPB1, suggesting a putative case of recessive inheritance, which requires additional research to confirm. Three HSPB8 variants were located in the p.K141 residue, which seemed to be a mutational hot spot. There were no significant differences between patient groups, which divided by sHSP genes for clinical symptoms such as onset age, severity, and nerve conduction. Early-onset patients showed a tendency of slightly decreased sensory nerve conduction values compared with late-onset patients. As a first Korean IPN cohort study examining sHSP genes, these results will, we believe, be helpful for molecular diagnosis and care of patients with CMT2 and dHMN. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
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Other

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11 pages, 1665 KiB  
Case Report
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
by Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas and Miguel A. Martín
Genes 2022, 13(10), 1835; https://doi.org/10.3390/genes13101835 - 11 Oct 2022
Cited by 6 | Viewed by 2166
Abstract
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes [...] Read more.
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one of the patients, psoriasis-like dermatitis. We identified in the LDHA gene a homozygous c.410C>A substitution that predicts a p.Ser137Ter nonsense mutation in Patient One and a compound heterozygous c.410C>A (p.Ser137Ter) and c.750G>A (p.Trp250Ter) nonsense mutation in Patient Two. The pathogenicity of the variants was demonstrated by electrophoretic separation of LDH isoenzymes. Moreover, a flat lactate curve on the forearm exercise test, along with the clinical combination of myopathy and psoriatic-like dermatitis, can also lead to the diagnosis. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
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12 pages, 2166 KiB  
Brief Report
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
by Mohammad AlMuhaizea, Omar Dabbagh, Hanan AlQudairy, Aljouhra AlHargan, Wafa Alotaibi, Ruba Sami, Rahaf AlOtaibi, Mariam Mahmoud Ali, Hindi AlHindi, Dilek Colak and Namik Kaya
Genes 2021, 12(11), 1783; https://doi.org/10.3390/genes12111783 - 10 Nov 2021
Cited by 3 | Viewed by 2604
Abstract
Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive [...] Read more.
Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in MEGF10 (multiple epidermal growth factor-like domains protein family). Here, we report two unrelated patients, who were born to consanguineous parents, having two novel MEGF10 deleterious variants. Interestingly, the presence of MEGF10 associated EMARDD has not been reported in Saudi Arabia, a highly consanguineous population. Moreover, both variants lead to a different phenotypic onset of mild and severe types. Our work expands phenotypic features of the disease and provides an opportunity for genetic counseling to the inflicted families. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
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