Literature DB >> 33155830

Epigenetics of neuromuscular disorders.

Fabio Coppedè1.   

Abstract

Neuromuscular disorders are a heterogeneous group of conditions affecting the neuromuscular system. The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies. DNA methylation changes are observed in both hereditary and sporadic forms, and combining DNA methylation analysis with mutational screening holds the potential for better diagnostic and prognostic accuracy. Novel, less toxic and more selective epigenetic drugs are designed and tested in animal and cell culture models of neuromuscular disorders, and non-coding RNAs are being investigated as either disease biomarkers or targets of therapeutic approaches to restore gene expression levels. Overall, neuromuscular disorder epigenetic biomarkers have a strong potential for clinical applications in the near future.

Entities:  

Keywords:  DNA methylation; Duchenne and Becker muscular dystrophy; amyotrophic lateral sclerosis; epigenetics; facioscapulohumeral muscular dystrophy; miRNAs; myotonic dystrophy type 1; spinal muscular atrophy

Year:  2020        PMID: 33155830     DOI: 10.2217/epi-2020-0282

Source DB:  PubMed          Journal:  Epigenomics        ISSN: 1750-192X            Impact factor:   4.778


  7 in total

1.  Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Authors:  Fernando Morales; Eyleen Corrales; Baili Zhang; Melissa Vásquez; Carolina Santamaría-Ulloa; Hazel Quesada; Mario Sirito; Marcos R Estecio; Darren G Monckton; Ralf Krahe
Journal:  Hum Mol Genet       Date:  2021-12-27       Impact factor: 5.121

Review 2.  Epigenetics of Myotonic Dystrophies: A Minireview.

Authors:  Virginia Veronica Visconti; Federica Centofanti; Simona Fittipaldi; Elisa Macrì; Giuseppe Novelli; Annalisa Botta
Journal:  Int J Mol Sci       Date:  2021-11-22       Impact factor: 5.923

3.  Targeting the epigenome to treat neurodegenerative diseases or delay their onset: a perspective.

Authors:  Fabio Coppede
Journal:  Neural Regen Res       Date:  2022-08       Impact factor: 5.135

4.  The Role of Skeletal Muscle in Neuromuscular Diseases: From Cellular and Molecular Players to Therapeutic Interventions.

Authors:  Gabriella Dobrowolny; Bianca Maria Scicchitano
Journal:  Cells       Date:  2022-04-03       Impact factor: 6.600

Review 5.  The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Authors:  Michelle A Johnson; Jacob A Klickstein; Richa Khanna; Yunzi Gou; Malavika Raman
Journal:  Neurobiol Dis       Date:  2022-04-08       Impact factor: 7.046

6.  Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders.

Authors:  Fabio Coppedè; Cristina Cereda; Carla Lintas; Andrea Stoccoro
Journal:  Front Mol Neurosci       Date:  2022-06-10       Impact factor: 6.261

Review 7.  Age-Related Alterations at Neuromuscular Junction: Role of Oxidative Stress and Epigenetic Modifications.

Authors:  Gabriella Dobrowolny; Alessandra Barbiera; Gigliola Sica; Bianca Maria Scicchitano
Journal:  Cells       Date:  2021-05-24       Impact factor: 6.600

  7 in total

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