评估外周血中可溶性集落刺激因子 1 受体 (CSF1R) 作为小鼠模型和 CSF1R-RD 患者 CSF1R 相关性疾病 (CSF1R-RD) 诊断标志物的情况。

IF 8.1 1区医学 Q1 CLINICAL NEUROLOGY

Annals of Neurology Pub Date : 2024-11-21 DOI:10.1002/ana.27147

Banglian Hu BMed, Yuhang Zhou MS, Chujun Wu MD PhD, Naian Xiao MD PhD, Jianpeng Li MD PhD, Xin Li MS, Yanfang Li PhD, Xian Zhang PhD, Xiaohua Huang MS, Yabin Song MD, Zhanxiang Wang MD, PhD, Yun-Wu Zhang PhD, Zaiqiang Zhang MD, PhD, Honghua Zheng MD, PhD

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引用次数: 0

摘要

集落刺激因子 1 受体（CSF1R）突变会导致 CSF1R 相关障碍（CSF1R-RD）。我们之前的研究表明，蛋白水解产生的可溶性 CSF1R（sCSF1R）有可能作为 CSF1R-RD 的诊断生物标志物。在此，我们观察到，在模仿 CSF1R-RD 患者临床症状的 Csf1r+/- 小鼠体内，sCSF1R 以高度糖基化的单体形式释放到外周血清中。值得注意的是，我们发现血清中的 sCSF1R 可以区分 CSF1R-RD 组群和对照组，接收器操作特征曲线（ROC）的评估结果表明其准确性很高。这项研究表明，血清中减少的 sCSF1R 可作为 CSF1R-RD 的诊断生物标志物。ann neurol 2024.

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Evaluation of Soluble Colony Stimulating Factor 1 Receptor (CSF1R) in Peripheral Blood as a Diagnostic Marker of CSF1R-Related Disorder (CSF1R-RD) in a Murine Model and CSF1R-RD Patients

Mutations in colony stimulating factor 1 receptor (CSF1R) result in CSF1R-related disorder (CSF1R-RD). Our previous study demonstrated a proteolytic generation of a soluble CSF1R (sCSF1R) that could potentially serve as a diagnostic biomarker of CSF1R-RD. Herein, we observed that sCSF1R is released into peripheral serum as a highly glycosylated monomer in Csf1r^+/− mice that mimic the clinical symptoms of CSF1R-RD patients. Notably, we found that serum sCSF1R could distinguish CSF1R-RD cohorts from controls with high accuracy as evaluated by receiver operating characteristic (ROC) curves. This study demonstrates that reduced sCSF1R in serum may serve as a diagnostic biomarker for CSF1R-RD. ANN NEUROL 2025;97:397–403

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来源期刊

Annals of Neurology 医学-临床神经学

CiteScore

18.00

自引率

1.80%

发文量

270

审稿时长

3-8 weeks

期刊介绍： Annals of Neurology publishes original articles with potential for high impact in understanding the pathogenesis, clinical and laboratory features, diagnosis, treatment, outcomes and science underlying diseases of the human nervous system. Articles should ideally be of broad interest to the academic neurological community rather than solely to subspecialists in a particular field. Studies involving experimental model system, including those in cell and organ cultures and animals, of direct translational relevance to the understanding of neurological disease are also encouraged.