Beyond the Antibodies: Sera Metabolomic Biomarker Signatures Discriminate Myasthenic And Healthy Cohorts

Abstract

Myasthenia Gravis (MG) is a chronic, potentially debilitating autoimmune disease characterized by weakness and rapid fatigue of the voluntary muscles that worsens on exertion and improves on rest. Left untreated, MG symptoms may cause significant morbidity, affecting occupational performance, social activities, and family life. In severe cases, death may occur. To date, no robust biological marker is available to follow the course of the disease. Therefore, new diagnostic approaches and biological markers are essential not only for improved diagnosis of the disease but for improved outcomes. The research presented here attempts to provide an alternative biomarker model for the pathogenesis of myasthenia gravis and humoral autoimmune disease in general. The underlying hypothesis was that the metabolomic profile of myasthenia gravis would provide fundamental clues about the functioning of the disease and potential biomarkers to monitor it. The three papers provided have offered proof of concept that metabolomics can profile a disease, differentiate it from other similar diseases and correlate with clinical parameters. These results suggest a new mechanism for the diagnosis and clinical management of myasthenia gravis.