Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, Gothenburg, Sweden.
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
Mitochondrion. 2019 May;46:228-235. doi: 10.1016/j.mito.2018.07.002. Epub 2018 Jul 9.
We studied the biomarker patterns related to axonal injury, astrogliosis and amyloid metabolism in cerebrospinal fluid (CSF) of children and adolescents with mitochondrial encephalopathy and identified correlations with phenotype and survival outcome. Forty-six pediatric patients with genetically verified mitochondrial encephalopathy and twenty-two controls investigated at the Queen Silvia Children's Hospital, Sweden, were included. CSF lactate and neurofilament light (NF-L) were significantly increased in patients with mitochondrial encephalopathy compared to controls. Elevated CSF NF-L was associated with abnormal brain MRI and poorer survival. We suggest that CSF NF-L may be used in both clinical and research settings for monitoring the neurodegenerative process in mitochondrial disease.
我们研究了与轴索损伤、星形胶质细胞增生和淀粉样代谢相关的生物标志物模式在患有线粒体脑病的儿童和青少年的脑脊液 (CSF) 中的变化，并确定了其与表型和生存结果的相关性。本研究纳入了来自瑞典西尔维亚王后儿童医院的 46 名经基因验证的线粒体脑病患儿和 22 名对照组。与对照组相比，线粒体脑病患儿的 CSF 乳酸和神经丝轻链 (NF-L) 明显升高。升高的 CSF NF-L 与异常的脑 MRI 和更差的生存相关。我们建议 CSF NF-L 可用于临床和研究环境中，以监测线粒体疾病中的神经退行性过程。
