Wang Zhen, Zhao Junduo, Tan Haining, Jiao Yang, Chen Xin, Shen Jianxiong
Department of Orthopedics Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China.
Department of Orthopedics The First Affiliated Hospital of Nanjing Medical University Nanjing China.
JOR Spine. 2024 Mar 4;7(1):e1318. doi: 10.1002/jsp2.1318. eCollection 2024 Mar.
Previous 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.
Five 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.
A 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 , , , , , , , , , and . Among these hub genes, the asymmetrical expression of and in IS but not CS were validated by qPCR.
Transcriptomic differences in bilateral paraspinal muscles between the convexity and concavity in IS share few similarities with those in CS.
以往的研究通过影像学、组织学和肌电图等方法分析了特发性脊柱侧凸(IS)患者的椎旁肌失衡情况。然而,椎旁肌失衡是IS脊柱畸形的原因还是结果仍不清楚。比较IS和先天性脊柱侧凸(CS)患者的椎旁肌失衡情况可能有助于了解椎旁肌失衡与IS之间的因果关系。本研究旨在从基因表达方面阐明IS和CS患者椎旁肌失衡的共性与个性。
选取5对接受手术治疗的IS和CS患者进行配对。采集双侧顶点处的椎旁肌进行转录组测序。确定IS和CS患者凸侧和凹侧之间的差异表达基因(DEG)。比较IS和CS患者的DEG,以区分IS特有的DEG和IS与CS共有的DEG。进行生物信息学分析。通过定量PCR(qPCR)在10对IS和CS患者中验证IS特有的DEG的蛋白质-蛋白质相互作用(PPI)网络中的前10个枢纽基因。
在IS患者中总共鉴定出370个DEG,而在CS患者中鉴定出380个DEG。IS和CS患者DEG的比较确定了IS和CS共有的59个DEG,以及IS特有的311个DEG。这些IS特有的DEG在GO术语中富集于对外界刺激的反应和信号受体结合,在KEGG途径中富集于钙信号通路。IS特有的DEG的PPI网络中的前10个枢纽基因包括 , , , , , , , , ,和 。在这些枢纽基因中,通过qPCR验证了 和 在IS患者中而非CS患者中的不对称表达。
IS患者凸侧和凹侧双侧椎旁肌的转录组差异与CS患者的差异几乎没有相似之处。