Future perspectives in myasthenia gravis (Review)
- Rebecca Golfinopoulou
- Eleni Papakonstantinou
- Dimitrios Vlachakis
Affiliations: Laboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, 11855 Athens, Greece
- Published online on: May 30, 2023 https://doi.org/10.3892/ije.2023.16
Copyright : © Golfinopoulou
et al. This is an open access article distributed under the
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Commons Attribution License [CC BY 4.0].
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Myasthenia gravis (MG) is a rare, highly polygenic autoimmune disease mainly caused by target‑specific pathogenic antibodies, and its fluctuating course through the patient's life, often entails hospitalizations and difficulties in everyday life. The pathophysiology of MG is complex with a number of contributing factors, involving genetic, epigenetic and environmental factors are responsible for a limited immune tolerance. This heterogenic disease appears to have a common genetic background with other diseases and a number of single nucleotide polymorphisms (SNPs) have been found to be associated with different forms of MG through genome‑wide association studies; i.e, the cholinergic receptor nicotinic alpha 1 subunit (CHRNA1) that encodes for subunit α of the acetylcholine receptor includes a SNP allele associated with MG. Additionally, specific genes or even genomic regions can be differentiated by a set of epigenetic factors, including methylations, non‑coding RNAs and histone modifications. The role of epigenetics in MG has been reported in monozygotic twin studies, where the combination of specific methylations and numerous small changes in gene expression have been shown to contribute to the development of the disease, demonstrating a stronger genetic predisposition for MG. Establishing the genetic and epigenetic background of MG in the realm of autoimmune diseases can further promote basic research and the development of novel therapeutic approaches that can be used to overcome the limitations of current clinical practices.