Comparative analysis of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis from the transcriptome aspect

Zhen Wang,Junduo Zhao, Haining Tan,Yang Jiao, Xin Chen, Jianxiong Shen

JOR SPINE(2024)

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摘要
BackgroundPrevious studies have analyzed paraspinal muscle imbalance in idiopathic scoliosis (IS) with methods including imaging, histology and electromyography. However, whether paraspinal muscle imbalance is the cause or the consequence of spinal deformities in IS remains unclear. Comparison of paraspinal muscle imbalance between IS and congenital scoliosis (CS) may shed some light on the causality of paraspinal muscle imbalance and IS. This study aimed to elucidate the generality and individuality of paraspinal muscle imbalance between IS and CS from gene expression.MethodsFive pairs of surgical-treated IS and CS patients were matched. Bilateral paraspinal muscles at the apex were collected for transcriptome sequencing. Differentially expressed genes (DEGs) between the convexity and concavity in both IS and CS were identified. Comparison of DEGs between IS and CS was conducted to discriminate IS-specific DEGs from DEGs shared by both IS and CS. Bioinformatics analysis was performed. The top 10 hub genes in the protein-protein interaction (PPI) network of IS-specific DEGs were validated by quantitative PCR (qPCR) in 10 pairs of IS and CS patients.ResultsA total of 370 DEGs were identified in IS, whereas 380 DEGs were identified in CS. Comparison of DEGs between IS and CS identified 59 DEGs shared by IS and CS, along with 311 DEGs specific for IS. These IS-specific DEGs were enriched in response to external stimulus and signaling receptor binding in GO terms and calcium signaling pathway in KEGG pathways. The top 10 hub genes in the PPI network of IS-specific DEGs include BDKRB1, PRH1-TAS2R14, CNR2, NPY4R, HTR1E, CXCL3, ICAM1, ALB, ADIPOQ, and GCGR. Among these hub genes, the asymmetrical expression of PRH1-TAS2R14 and ADIPOQ in IS but not CS were validated by qPCR.ConclusionsTranscriptomic differences in bilateral paraspinal muscles between the convexity and concavity in IS share few similarities with those in CS. Both idiopathic scoliosis (IS) and congenital scoliosis (CS) exhibit transcriptomic imbalance in paraspinal muscles between the convex side and concave side. Transcriptome profile for paraspinal muscle imbalance in IS is remarkably different from that in CS. Transcriptomic imbalance in bilateral paraspinal muscles of IS tends to be the integrative outcome of primary imbalance in transcriptome and transcriptomic imbalance secondary to spinal deformities. image
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关键词
bioinformatic analysis,congenital scoliosis,differentially expressed genes,idiopathic scoliosis,paraspinal muscle imbalance
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