Shimamura Mika, Weijie Kong, Nonaka Toshiaki, Kosami Koki, Ae Ryusuke, Fujita Koji, Matsubayashi Taiki, Tsukamoto Tadashi, Sanjo Nobuo, Satoh Katsuya
Biomedical Research Support Center, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
Unit of Medical and Dental Sciences, Department of Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
Biomolecules. 2024 Dec 25;15(1):8. doi: 10.3390/biom15010008.
Prion diseases, including Creutzfeldt-Jakob disease (CJD), are deadly neurodegenerative disorders characterized by the buildup of abnormal prion proteins in the brain. This accumulation disrupts neuronal functions, leading to the rapid onset of psychiatric symptoms, ataxia, and cognitive decline. The urgency of timely diagnosis for effective treatment necessitates the identification of strongly correlated biomarkers in bodily fluids, which makes our research crucial. In this study, we employed a fully automated multiplex ELISA (Ella) to measure the concentrations of 14-3-3 protein, total tau protein, and neurofilament light chain (NF-L) in cerebrospinal fluid (CSF) and serum samples from patients with prion disease and analyzed their link to disease prognosis. However, in North American and European cases, we did not confirm a correlation between NF-L levels and survival time. This discrepancy is believed to stem from differences in treatment policies and measurement methods between Japan and the United States. Nonetheless, our findings suggest that NF-L concentrations could be an early diagnostic marker for CJD patients with further enhancements. The potential impact of our findings on the early diagnosis of CJD patients is significant. Future research should focus on increasing the number of sCJD cases studied in Japan and gathering additional evidence using next-generation measurement techniques.
朊病毒病，包括克雅氏病（CJD），是致命的神经退行性疾病，其特征是大脑中异常朊病毒蛋白的积累。这种积累会破坏神经元功能，导致精神症状、共济失调和认知能力下降迅速出现。及时诊断以进行有效治疗的紧迫性使得有必要在体液中识别高度相关的生物标志物，这使得我们的研究至关重要。在本研究中，我们采用全自动多重酶联免疫吸附测定法（Ella）来测量朊病毒病患者脑脊液（CSF）和血清样本中14-3-3蛋白、总tau蛋白和神经丝轻链（NF-L）的浓度，并分析它们与疾病预后的关联。然而，在北美和欧洲的病例中，我们并未证实NF-L水平与生存时间之间存在相关性。这种差异被认为源于日本和美国在治疗政策和测量方法上的不同。尽管如此，我们的研究结果表明，进一步改进后，NF-L浓度可能成为CJD患者的早期诊断标志物。我们的研究结果对CJD患者早期诊断的潜在影响是巨大的。未来的研究应侧重于增加日本散发性克雅氏病（sCJD）病例的研究数量，并使用下一代测量技术收集更多证据。
