26. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V.

Dr. med.

Vorsitz

Moderne Therapieoptionen in der Behandlung der Myasthenia gravis

Prof. Dr.

eingeladener Redner

Vortrag

Aktuelle Therapieoptionen bei juveniler Myasthenia gravis

Verstehen wir die Pathogenese der Myasthenia gravis wirklich? Neues zu Pathophysiologie und pathophysiologisch orientierter Therapie 

PD Dr.

PD Dr.rer nat

Dr. rer. nat.

Prof. Dr. med

Univ.-Prof. Dr. med. Dr. rer. nat.

PD Dr. med.

Proteomic profiling identifies ITIH3 as biomarker for disease activity in myasthenia gravis

Abstract-Text (inkl. Referenzen) Introduction: Myasthenia gravis (MG) is a chronic antibody (ab)-mediated autoimmune disease disrupting neuromuscular synaptic transmission. Abs against the acetylcholine receptor (AChR) are detected in approximately 85% of patients. Biomarkers reflecting disease activity are lacking for MG. Material/Methods: In the current study, we performed mass spectrometry-based proteomic serum profiling of an independent cohort including a total of 114 anti-AChR-ab positive MG patients to dissect their proteome signatures and identify potential biomarkers for MG. We correlated protein levels with clinical parameters using a machine learning (ML) approach. Finally, we validated our findings by IHC. Results: Analysis of the serum proteome demonstrated aberrant complement activation in active MG. ML identified inter-alpha-trypsin inhibitor heavy chain H3 (ITIH3) as potential serum biomarker reflective of disease activity. IHC of muscle specimens from these patients proved localization of ITIH3 to the neuromuscular endplates in MG. Conclusion: This study provides first data on ITIH3 as a potential biomarker for MG disease activity. We will validate our findings, especially the predictive value of ITIH3, in a second independent cohort of MG patients to substantiate ITIH3 as biomarker. ITIH3 serum levels will be confirmed by ELISAs. Future studies are required to facilitate translation into clinical practice.

Sitzung 14
Erkrankungen der neuromuskulären Endplatte

Appointment

Vorsitz

Programme

Sitzung 14Erkrankungen der neuromuskulären Endplatte

Appointment

Vorsitz

Programme

Sitzung 14
Erkrankungen der neuromuskulären Endplatte