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August 19, 2026JOR SpineOpen Access

Fetal Pathogenesis of Scoliosis Suggested by Asymmetry of Gene Expression in Paravertebral Muscles

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Authors

TCTian ChengYGYazgeldi GamzeEEElísabet Einarsdóttir

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Overview

Transcriptomic study reveals asymmetric gene expression in paravertebral muscles of idiopathic scoliosis patients, suggesting a fetal developmental origin.

Key Points

  • Investigate gene expression profiles and cell-type heterogeneity across convex and concave paravertebral muscles to clarify the pathogenesis of idiopathic scoliosis.
  • Analyzed bilateral muscle biopsies from idiopathic scoliosis patients (N=40 initially, 35 qualified yielding 56 samples) and controls (N=19 initially, 17 qualified yielding 22 samples).
  • Performed RNA sequencing, differential gene expression analysis, gene set enrichment analysis, and preoperative CT-derived Hounsfield unit density assessments.
  • Identified 22 differentially expressed genes between scoliosis cases and controls, and 16 differentially expressed genes between convex and concave curve sides across 14,212 analyzed genes.
  • Scoliosis cases showed reduced fetal muscle and immune cells, while the convex side exhibited increased fetal skeletal muscle cells alongside decreased fibro-adipogenic progenitors, endothelial cells, satellite cells, and myeloid cells, matching Hounsfield unit morphological asymmetry.

Cite This Study

Cheng et al. (2026) studied this question.

synapsesocial.com/papers/6a8562eb03308d306e2d5dffhttps://doi.org/10.1002/jsp2.70214
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