Immunological Imbalance in Fibrodysplasia Ossificans Progressiva Revealed by PBMC Transcriptome Analysis

In order to study the inflammation mechanism of FOP patients' peripheral blood system, we profiled the transcriptome of peripheral blood mononuclear cells (PBMC) from 3 FOP patients as well as 3 healthy people. After comparing the PBMC transcriptomes between FOP patients and healthy control, we identified 335 differentially expressed genes from FOP patients, including 135 significantly up-regulated and 200 significantly down-regulated genes. Using functional predictive analysis, we discovered these genes are enriched in GO terms such as proliferation, differentiation of T cells and anti-apoptotic process. By cross comparison with previous published data, we found 21 differentially expressed genes overlapped with SMAD signaling target genes.Our observations indicate the role of adaptive immune system activation during the pathology of abnormal muscular ossification. Our study further highlights the significance of anti-inflammatory therapy in the treatment of FOP and provide novel molecular markers for the clinical diagnosis of FOP disease. Overall design: PBMC RNA-seq