title: Blood Transcriptome Profiling in Myasthenia Gravis Patients to Assess Disease Activity: A Pilot RNA-seq Study.
abstract: 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.
authors.affiliation: Department of Neurology, Gyeongsang National University Hospital, Jinju 52727, Korea.
authors.forename: Kee Hong
authors.initials: KH
authors.lastname: Park
authors.affiliation: Department of Bioinformatics, Macrogen Inc., Seoul 08511, Korea.
authors.forename: Junghee
authors.initials: J
authors.lastname: Jung
authors.affiliation: Department of Biomedical Science, Hallym University, Chuncheon 24252, Korea.
authors.forename: Jung-Hee
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 07061, Korea.
authors.forename: Yoon-Ho
authors.initials: YH
authors.lastname: Hong
keywords: RNA sequencing; Transcriptome; apoptosis; cell migration; myasthenia gravis