Li Jie, Duan Yuhan, Zhao Deming, Shah Syed Zahid Ali, Wu Wei, Zhang Xixi, Lai Mengyu, Guan Zhiling, Yang Dongming, Wu Xiaoqian, Gao Hongli, Zhao Huafen, Shi Qi, Yang Lifeng
Key Laboratory of Animal Epidemiology and Zoonosis, Ministry of Agriculture, National Animal Transmissible Spongiform Encephalopathy Laboratory, College of Veterinary Medicine, China Agricultural University, Beijing, China.
Department of Pathology, Faculty of Veterinary Sciences, Cholistan University of Veterinary and Animal Sciences, Bahawalpur, Pakistan.
Front Neurol. 2019 Jun 21;10:645. doi: 10.3389/fneur.2019.00645. eCollection 2019.
The current diagnosis method for Creutzfeldt-Jakob disease (CJD) is post-mortem examination, so early detection of CJD has been historically problematic. Auxiliary detection of CJD based on changes in levels of components of the cerebrospinal fluid (CSF) has become a focus of research. In other neurodegenerative diseases such as Alzheimer's disease (AD), cell-free mitochondrial DNA (mtDNA) in the CSF of patients may serve as a biomarker that could facilitate early diagnosis and studies of the mechanisms underlying the disease. In this study, the cell-free mitochondrial DNA in the CSF of patients with sCJD and control patients was compared by digital droplet PCR. The cell-free mitochondrial DNA copy number in the CSF of sCJD patients was significantly increased in comparison with that of the control group, and this difference was pathologically related to CJD. Therefore, we speculate that changes in cerebrospinal fluid mitochondrial DNA copy number play an important role in the study of CJD mechanism and diagnosis.
目前克雅氏病（CJD）的诊断方法是尸检，因此CJD的早期检测一直存在问题。基于脑脊液（CSF）成分水平变化的CJD辅助检测已成为研究热点。在其他神经退行性疾病如阿尔茨海默病（AD）中，患者脑脊液中的游离线粒体DNA（mtDNA）可能作为一种生物标志物，有助于疾病的早期诊断和发病机制研究。在本研究中，通过数字 droplet PCR 比较了散发性克雅氏病（sCJD）患者和对照患者脑脊液中的游离线粒体DNA。与对照组相比，sCJD患者脑脊液中的游离线粒体DNA拷贝数显著增加，且这种差异与CJD存在病理相关性。因此，我们推测脑脊液线粒体DNA拷贝数的变化在CJD发病机制研究和诊断中起重要作用。
