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 17148
Special Issue Editor
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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