Genetic association study of the NLRP3 inflammasome-induced pathway with Myasthenia in the Hellenic population

Myasthenia gravis is a complex autoimmune disease, characterized by the production of autoantibodies mainly against the acetylcholine receptor of the neuromuscular junction. Chronic inflammation, which is observed in many tissue-specific autoimmune disorders, could represent a basic field of research in Myasthenia too. Autoinflammatory diseases are characterized by excessive secretion of proinflammatory cytokines, like IL-1β. The production of mature IL-1β is dependent on the action of a protein complex called “NLRP3 inflammasome”, whose role is the cellular response to various pathogenic and non-pathogenic stimuli. Many studies address the existence of genetic association between autoimmune diseases and variations in genes encoding protein components of NLRP3 inflammasome. However, no such study has been ever conducted in the context of Myasthenia. The proposed project aims to identify novel genetic markers that might explain part of the genetic susceptibility of the development of Myasthenia in the Hellenic population, by utilizing research approaches from the field of population genetics.

This project was evaluated and funded as part of the Foundation’s effort to support research teams with all their members being under 40 years old.