Clinical Genomic, phenotype and epigenetic insights into the pathology, autoimmunity and weight management of patients with Myasthenia Gravis (Review)

Golfinopoulou,Rebecca; Papageorgiou,Louis; Efthimiadou,Aspasia; Bacopoulou,Flora; Chrousos,George P.; Eliopoulos,Elias; Vlachakis,Dimitrios

doi:10.3892/mmr.2021.12151

Clinical Genomic, phenotype and epigenetic insights into the pathology, autoimmunity and weight management of patients with Myasthenia Gravis (Review)

Authors:
- Rebecca Golfinopoulou
- Louis Papageorgiou
- Aspasia Efthimiadou
- Flora Bacopoulou
- George P. Chrousos
- Elias Eliopoulos
- Dimitrios Vlachakis
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Affiliations: Laboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, 11855 Athens, Greece, Hellenic Agricultural Organization‑Demeter, Institute of Soil and Water Resources, Department of Soil Science of Athens, Lycovrisi, 14123 Athens, Greece, University Research Institute of Maternal and Child Health & Precision Medicine, and UNESCO Chair on Adolescent Health Care, National and Kapodistrian University of Athens, ‘Aghia Sophia’ Children's Hospital, 11527 Athens, Greece, University Research Institute of Maternal and Child Health & Precision Medicine, and UNESCO Chair on Adolescent Health Care,National and Kapodistrian University of Athens, ‘Aghia Sophia’ Children's Hospital, 11527 Athens, Greece
Published online on: May 12, 2021 https://doi.org/10.3892/mmr.2021.12151
Article Number: 512

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Abstract

Myasthenia Gravis (MG) is an autoimmune disease that affects neuromuscular junctions and is characterized by muscle weakness as a result of autoantibodies against certain proteins. As a heterogeneous disorder, MG presents with different types, including neonatal, ocular and generalized in both juveniles and adults. Different types of antibodies serve a role in how MG presents. The main biological characteristic of MG is the production of antibodies against the muscular acetylcholine receptor; however, other types of antibody have been associated with the disorder. The role of the thymus gland has been established and thymectomy is a possible treatment of the disease, along with traditional medication such as pyridostigmine bromide (Mestinon) and immunosuppresants. In recent years, steps have been made towards developing more sensitive diagnostic methods. Additionally, novel treatments have demonstrated promising results. Developing new assays may lead to an increased understanding of the disease and to unravelling the genetic pathway that leads to the development of neuromuscular diseases.

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