Original Article

Exp Neurobiol 2016; 25(1): 40-47

Published online February 29, 2016

© The Korean Society for Brain and Neural Sciences

Blood Transcriptome Profiling in Myasthenia Gravis Patients to Assess Disease Activity: A Pilot RNA-seq Study

Kee Hong Park1, Junghee Jung2, Jung-Hee Lee3 and Yoon-Ho Hong4*

1Department of Neurology, Gyeongsang National University Hospital, Jinju 52727, 2Department of Bioinformatics, Macrogen Inc., Seoul 08511, 3Department of Biomedical Science, Hallym University, Chuncheon 24252, 4Department of Neurology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 07061, Korea

Correspondence to: *To whom correspondence should be addressed.
TEL: 82-2-840-2474, FAX: 82-2-831-2826

Received: January 6, 2016; Revised: February 5, 2016; Accepted: February 5, 2016


Myasthenia gravis (MG) is an antibody-mediated autoimmune disease characterized by exertional weakness. There is no biomarker to reflect disease activity and guide treatment decision. Here, we reported a pilot blood transcriptome study using RNA sequencing (RNA-seq) that identified differences of 5 samples in active status and 5 in remission from 8 different patients and 2 patients provided samples for both active and remission phase. We found a total of 28 differentially expressed genes (DEGs) possibly related to disease activity (23 up-regulated and 5 down-regulated). The DEGs were enriched for the cell motion and cell migration processes in which included were ICAM1, CCL3, S100P and GAB2. The apoptosis and cell death pathway was also significantly enriched, which includes NFKBIA, ZC3H12A, TNFAIP3, and PPP1R15A. Our result suggests that transcript abundance profiles of the genes involved in cell trafficking and apoptosis may be a molecular signature of the disease activity in MG patients.

Keywords: Transcriptome, RNA sequencing, myasthenia gravis, cell migration, apoptosis