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<p>Cerebral palsy (CP), a prevalent non-progressive neurological disorder in children, lacks reliable biomarkers for early diagnosis, and its molecular mechanisms remain poorly understood. In this study, we conducted serum proteomic profiling of 346 CP patients and 190 healthy controls and developed a 10-protein multi-marker panel for application in diagnosis of CP. The panel was further validated in an independent CP cohort using an orthogonal method, enzyme-linked immunosorbent assay (ELISA). By integrating serum proteomic data with whole-exome sequencing (WES) results, we found that CP patients carrying pathogenic variants exhibited downregulation of synaptic and calcium signaling pathways at the protein level. We also explored the impact of clinical risk factors on the proteome, identifying disruptions in lipid metabolism associated with low birth weight and low gestational age. Additionally, we found a positive correlation between Immunoglobulin Heavy Variable (IGHV) families and higher Gross Motor Function Classification System (GMFCS) levels. Overall, our study provides a valuable tool for early CP diagnosis that complements standard clinical and genomic assessments, and suggests potential molecular mechanisms associated with CP pathogenesis, highlighting the interplay among genetic, environmental, and protein network factors.</p>

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Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月21日

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  • Yiran Xu,
  • Chi Ma,
  • Yanyan Sun,
  • Jiajun Zhu,
  • Shiman He,
  • Hui Gao,
  • Subei Tan,
  • Lingling Zhang,
  • Jinwen Feng,
  • Yangong Wang,
  • Sha Tian,
  • Qinghe Xing,
  • Jiamei Zhang,
  • Yanan Wu,
  • Xiaoli Zhang,
  • Lirong Zhang,
  • Dengna Zhu,
  • Michael Kruer,
  • Xiaoyang Wang,
  • Jozef Gecz,
  • Changlian Zhu,
  • Chen Ding

摘要

Cerebral palsy (CP), a prevalent non-progressive neurological disorder in children, lacks reliable biomarkers for early diagnosis, and its molecular mechanisms remain poorly understood. In this study, we conducted serum proteomic profiling of 346 CP patients and 190 healthy controls and developed a 10-protein multi-marker panel for application in diagnosis of CP. The panel was further validated in an independent CP cohort using an orthogonal method, enzyme-linked immunosorbent assay (ELISA). By integrating serum proteomic data with whole-exome sequencing (WES) results, we found that CP patients carrying pathogenic variants exhibited downregulation of synaptic and calcium signaling pathways at the protein level. We also explored the impact of clinical risk factors on the proteome, identifying disruptions in lipid metabolism associated with low birth weight and low gestational age. Additionally, we found a positive correlation between Immunoglobulin Heavy Variable (IGHV) families and higher Gross Motor Function Classification System (GMFCS) levels. Overall, our study provides a valuable tool for early CP diagnosis that complements standard clinical and genomic assessments, and suggests potential molecular mechanisms associated with CP pathogenesis, highlighting the interplay among genetic, environmental, and protein network factors.