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Epigenetic Alterations in Neuromuscular Disorders
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Epigenetic Alterations in Neuromuscular Disorders

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: closed (31 January 2021) | Viewed by 15046

Special Issue Editor

Dr. Frederique Magdinier

E-Mail Website
Guest Editor
Aix Marseille Université, Marseille, France
Interests: Epigenetics; DNA methylation; nuclear topology; stem cells; muscle; facioScapuloHumeral Dytrophy; rare diseases

Special Issue Information

Dear Colleagues,

We now know that skeletal muscle can be programmed early in life and memorize exposure to environmental stimuli such as exercise, nutriments, and probably many other cues. Furthermore, skeletal muscle differentiation involves complex interplays and coordinated action of stage-specific transcription factors able to orchestrate the different steps of this differentiation from the proliferation of stem cells to the formation of mature multinucleated muscle fibers. Understanding the precise regulation of pathways at play during skeletal muscle differentiation and mechanisms that underpin such cellular specification is, therefore, important for deciphering normal muscle function and also detrimental alterations associated with physiological or pathological aging and a number of rare to common diseases.

Epigenetic regulation, including DNA methylation changes, histone post-translational modifications, and micro RNAs are crucial for controlling gene expression through recruitment of various chromatin-modifying enzymes that drive chromatin dynamics during myogenesis. Epigenetic pathways involved in the control of gene activity and expression, which are not dependent on the genetic DNA code, thus, emerge as important modulators of muscle cells function, muscle mass, adaptation throughout life, and diseases.

The goal of this series of articles focuses on neuromuscular disorders epigenetics is to cover the current view on the subject in skeletal muscle differentiation but also to illustrate how the epigenetic-dependent translation of environmental cues contribute to frailty and loss of muscle mass, in particular during aging or in a number of diseases.

Dr. Frederique Magdinier
Guest Editor

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Keywords

  • satellite cells
  • stem cells
  • myoblasts
  • myotubes
  • myofibers
  • myogenic factors
  • neuromuscular junctions
  • epigenetics
  • DNA methylation
  • histones
  • repetitive DNA sequences
  • nuclear topology
  • telomeres
  • neuromuscular disorders
  • exercise
  • adaptation

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Published Papers (4 papers)

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Research

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18 pages, 5095 KiB  
Article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
by Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones and Rossella Tupleradd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2020, 21(7), 2635; https://doi.org/10.3390/ijms21072635 - 10 Apr 2020
Cited by 19 | Viewed by 4096
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the [...] Read more.
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited the Italian Registry for FSHD, in which FSHD families are classified using the Clinical Comprehensive Evaluation Form (CCEF). A total of 122 index cases showing a classical FSHD phenotype (CCEF, category A) and 110 relatives were selected to test with the receiver operating characteristic (ROC) curve, the diagnostic and predictive value of D4Z4 methylation. Moreover, we performed DNA methylation analysis in selected large families with reduced penetrance characterized by the co-presence of subjects carriers of one D4Z4 reduced allele with no signs of disease or presenting the classic FSHD clinical phenotype. We observed a wide variability in the D4Z4 methylation levels among index cases revealing no association with clinical manifestation or disease severity. By extending the analysis to family members, we revealed the low predictive value of D4Z4 methylation in detecting the affected condition. In view of the variability in D4Z4 methylation profiles observed in our large cohort, we conclude that D4Z4 methylation does not mirror the clinical expression of FSHD. We recommend that measurement of this epigenetic mark must be interpreted with caution in clinical practice. Full article
(This article belongs to the Special Issue Epigenetic Alterations in Neuromuscular Disorders)
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15 pages, 3303 KiB  
Article
Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia
by Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin and Ming-Jen Lee
Int. J. Mol. Sci. 2020, 21(7), 2593; https://doi.org/10.3390/ijms21072593 - 8 Apr 2020
Cited by 9 | Viewed by 3296
Abstract
Myotonia congenita (MC) is a rare disorder characterized by stiffness and weakness of the limb and trunk muscles. Mutations in the SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.4 have been reported to be responsible for sodium channel [...] Read more.
Myotonia congenita (MC) is a rare disorder characterized by stiffness and weakness of the limb and trunk muscles. Mutations in the SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.4 have been reported to be responsible for sodium channel myotonia (SCM). The Nav1.4 channel is expressed in skeletal muscles, and its related channelopathies affect skeletal muscle excitability, which can manifest as SCM, paramyotonia and periodic paralysis. In this study, the missense mutation p.V445M was identified in two individual families with MC. To determine the functional consequences of having a mutated Nav1.4 channel, whole-cell patch-clamp recording of transfected Chinese hamster ovary cells was performed. Evaluation of the transient Na+ current found that a hyperpolarizing shift occurs at both the activation and inactivation curves with an increase of the window currents in the mutant channels. The Nav1.4 channel’s co-expression with the Navβ4 peptide can generate resurgent Na+ currents at repolarization following a depolarization. The magnitude of the resurgent currents is higher in the mutant than in the wild-type (WT) channel. Although the decay kinetics are comparable between the mutant and WT channels, the time to the peak of resurgent Na+ currents in the mutant channel is significantly protracted compared with that in the WT channel. These findings suggest that the p.V445M mutation in the Nav1.4 channel results in an increase of both sustained and resurgent Na+ currents, which may contribute to hyperexcitability with repetitive firing and is likely to facilitate recurrent myotonia in SCM patients. Full article
(This article belongs to the Special Issue Epigenetic Alterations in Neuromuscular Disorders)
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10 pages, 852 KiB  
Article
Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
by Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier and Shahram Attarian
Int. J. Mol. Sci. 2020, 21(6), 2221; https://doi.org/10.3390/ijms21062221 - 23 Mar 2020
Cited by 4 | Viewed by 3407
Abstract
Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6–8 [...] Read more.
Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6–8 vs. 9–10 RUs, (2) the amount of methylation in different D4Z4 regions between patients with FSHD1 with different clinical severity scores (CSS). This cross-sectional multicenter study was conducted to measure functional scales and for genetic analysis. Patients were classified into two categories according to RUs: Group 1, 6–8; Group 2, 9–10. Methylation analysis was performed in 27 patients. A total of 99 carriers of a contracted D4Z4 array were examined. No significant correlations between RUs and CSS (r = 0.04, p = 0.73) and any of the clinical outcome scales were observed between the two groups. Hypomethylation was significantly more pronounced in patients with high CSS (>3.5) than those with low CSS (<1.5) (in DR1 and 5P), indicating that the extent of hypomethylation might modulate disease severity. In Group 1, the disease severity is not strongly correlated with the allele size and is mostly correlated with the methylation of D4Z4 regions. Full article
(This article belongs to the Special Issue Epigenetic Alterations in Neuromuscular Disorders)
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Review

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16 pages, 1148 KiB  
Review
Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1
by Laure de Pontual and Stéphanie Tomé
Int. J. Mol. Sci. 2022, 23(7), 3477; https://doi.org/10.3390/ijms23073477 - 23 Mar 2022
Cited by 6 | Viewed by 3598
Abstract
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in [...] Read more.
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease. The largest expanded alleles are generally associated with the earliest and most severe clinical form. However, CTG repeat length alone is not sufficient to predict disease severity and progression, suggesting the involvement of other factors. Several data support the role of epigenetic alterations in clinical and genetic variability. By highlighting epigenetic alterations in DM1, this review provides a new avenue on how these changes can serve as biomarkers to predict clinical features and the mutation behavior. Full article
(This article belongs to the Special Issue Epigenetic Alterations in Neuromuscular Disorders)
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