Hersrud Samantha L, Geraets Ryan D, Weber Krystal L, Chan Chun-Hung, Pearce David A
Sanford Children's Health Research Center, Sanford Research, Sioux Falls, SD, USA.
Sanford School of Medicine, University of South Dakota, Vermillion, SD, USA.
FEBS J. 2016 Feb;283(3):459-71. doi: 10.1111/febs.13593. Epub 2015 Dec 17.
The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative genetic diseases that primarily affect children and have no known cure. A unified clinical rating scale for the juvenile form of NCL has been developed, although it has not been validated in other subtypes and does not give a true measure of the pathophysiological changes occurring during disease progression. In the present study, we have identified candidate biomarkers in blood plasma of NCL disease using multiple proteomic approaches, with the aim of developing a panel of biomarkers that could serve as a metric for therapeutic response. Candidate biomarkers were identified as proteins with levels that significantly differed between patients and controls in both sample sets. The seven candidates identified have previously been associated with neurodegenerative and inflammatory diseases. Multiplex immunoassay based testing was the most efficient and effective evaluation technique and could be employed on a broad scale to track patient response to treatment.
神经元蜡样脂褐质沉积症（NCLs）是一组主要影响儿童的神经退行性遗传疾病，目前尚无已知的治愈方法。尽管尚未在其他亚型中得到验证，且无法真正衡量疾病进展过程中发生的病理生理变化，但已开发出一种针对青少年型NCL的统一临床评分量表。在本研究中，我们使用多种蛋白质组学方法在NCL疾病的血浆中鉴定了候选生物标志物，目的是开发一组可作为治疗反应指标的生物标志物。候选生物标志物被鉴定为在两个样本集中患者和对照之间水平存在显著差异的蛋白质。所鉴定出的7种候选物此前已与神经退行性疾病和炎症性疾病相关。基于多重免疫测定的检测是最有效且高效的评估技术，可广泛用于跟踪患者的治疗反应。
