Altered Circulating Cell-Free Mitochondrial DNA of Patients with Congenital Scoliosis
Altered Circulating Cell-Free Mitochondrial DNA of Patients with Congenital Scoliosis
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先天性脊柱侧弯患者循环游离线粒体 DNA 的改变
DOI：
10.1097/brs.0000000000003849
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发表时间：
2020
期刊：
影响因子：
3
通讯作者：
Chaofeng Guo
中科院分区：
文献类型：
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作者：
Guanteng Yang;Mingxing Tang;Hongqi Zhang;Jiong Li;Lige Xiao;Chaofeng Guo
研究设计：病例对照研究。目的：目的探讨先天性脊柱侧凸（CS）患者外周血循环游离DNA（ccf DNA）与临床参数的关系。背景资料概要：CS是一种复杂的脊柱畸形，是先天性椎体畸形的特征。虽然许多研究都集中在CS的病因，CS的原因仍然不清楚。以前，我们曾报道过青少年特发性脊柱侧凸（AIS）患者的循环无细胞DNA（ccf DNA）发生改变。然而，ccf DNA与CS患者临床参数之间的关系仍不清楚。方法：收集35例CS患者和32例年龄相匹配的对照者的外周血，进行ccf DNA分析。采用定量PCR检测ccf n-DNA和ccf mt-DNA水平，并进行相关性分析。应用受试者工作特征（ROC）曲线分析ccf n-DNA和ccf mt-DNA水平对不同特征的敏感性和特异性。研究结果：CS患者血浆ccf mtDNA ND 1和CYTC水平与对照组相比，无论是总体还是性别，均显著降低，而血浆ccf n-DNA水平无显著差异。根据ICVAS分型，S-SDV和M-SDV的ccf mt-DNA和ccf n-DNA均无差异。ROC曲线分析显示，ccf mt-DNA水平预测CS的敏感性和特异性可靠，但不能区分不同ICVAS类型。结论：CS患者血浆ccf mt-DNA水平较对照组明显降低。虽然这一发现对临床实践的意义有限，但它表明ccf mt-DNA可能预测CS的发生或发展。ccf mt-DNA在胚胎发育中的作用以及ccf mt-DNA是否可作为产前筛查发育障碍（如CS）的标志物值得进一步研究。证据等级：4级。
STUDY DESIGN: Case-control study. OBJECTIVE: To estimate the relationship between circulating cell-free DNA (ccf DNA) and clinical parameters of patients with congenital scoliosis (CS). SUMMARY OF BACKGROUND DATA: CS is a complex spinal deformity characteristic of congenital vertebral malformations. Although numerous studies have centered on the etiology of CS, the cause of CS remains unclear. Previously, we reported that circulating cell-free DNA (ccf DNA) is altered in adolescent idiopathic scoliosis (AIS). However, the relationship between ccf DNA and the clinical parameters of patients with CS remains unclear. METHODS: The plasma of peripheral blood from 35 patients with CS and 32 age-matched controls was collected for ccf DNA analysis. Quantitative PCR was used to detect ccf n-DNA and ccf mt-DNA levels, and correlation analyses between ccf n-DNA and ccf mt-DNA levels were conducted. Receiver operating characteristic (ROC) curves were used to analyze the sensitivity and specificity of ccf n-DNA and ccf mt-DNA levels to different characteristics. RESULTS: The plasma ccf mt-DNA levels of both ND1 and CYTC were significantly decreased in patients with CS compared with levels in controls both in total and by sex, while the plasma ccf n-DNA levels showed no significant difference. There is no difference in both ccf mt-DNA and ccf n-DNA between S-SDV and M-SDV according to ICVAS classification. The ROC curve analyses showed a reliable sensitivity and specificity of CS predicted by ccf mt-DNA levels in total but failed to distinguish different ICVAS types. CONCLUSION: Significantly decreased plasma ccf mt-DNA levels were observed in patients with CS compared with those in controls. Although this finding has limited significance for clinical practice, it indicates that ccf mt-DNA may predict the onset or development of CS. Further studies should focus on the role of ccf mt-DNA in embryo development and whether ccf mt-DNAs could be considered as a marker for prenatal screening in development disorder like CS. LEVEL OF EVIDENCE: 4.