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, 25 (1), 40-7

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


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

Kee Hong Park et al. Exp Neurobiol.


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: RNA sequencing; Transcriptome; apoptosis; cell migration; myasthenia gravis.


Fig. 1
Fig. 1. Multidimensional Scaling plot of gene expression profiles. The first plot dimension roughly corresponds to the disease activity. Paired samples are linked by dotted arrows.
Fig. 2
Fig. 2. Differentially expressed genes by Cuffdiff. (A) Volcano plot illustrating the differential expression levels of genes of the active and remission group. Genes that are significantly up- and down-regulated in the active compared to remission group are shown in red and green dots, respectively. (B) Heat map of the hierarchical clustering based on 98 differentially expressed genes (fold change≥2, p-value<0.05).
Fig. 3
Fig. 3. Venn diagram of DEGs from DESeq and Cuffdiff. (A) Up-regulated genes in the remission group. (B) Down-regulated genes in the remission group.
Fig. 4
Fig. 4. Gene interactions of up-regulated genes from GeneMANIA. Blue line indicates co-localization of the genes and predicted functional relationships between genes are indicated in orange. Circles filled with black signify the commonly detected genes by Cuffdiff and DESeq. Circles filled with gray indicate their interaction and added by GeneMania.

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