Silajdžić Edina, Björkqvist Maria
Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Department of Experimental Medical Science, Brain Disease Biomarker Unit, Wallenberg Neuroscience Center, Lund University, Lund, Sweden.
J Huntingtons Dis. 2018;7(2):109-135. doi: 10.3233/JHD-170273.
There is an unmet clinical need for objective biomarkers to monitor disease progression and treatment response in Huntington's disease (HD). The aim of this review is, therefore, to provide practical advice for biomarker discovery and to summarise studies on biofluid markers for HD. A PubMed search was performed to review literature with regard to candidate saliva, urine, blood and cerebrospinal fluid biomarkers for HD. Information has been organised into tables to allow a pragmatic approach to the discussion of the evidence and generation of practical recommendations for future studies. Many of the markers published converge on metabolic and inflammatory pathways, although changes in other analytes representing antioxidant and growth factor pathways have also been found. The most promising markers reflect neuronal and glial degeneration, particularly neurofilament light chain. International collaboration to standardise assays and study protocols, as well as to recruit sufficiently large cohorts, will facilitate future biomarker discovery and development.
在亨廷顿舞蹈症(HD)中,对于用于监测疾病进展和治疗反应的客观生物标志物存在尚未满足的临床需求。因此,本综述的目的是为生物标志物的发现提供实用建议,并总结关于HD生物流体标志物的研究。通过PubMed检索来回顾关于HD候选唾液、尿液、血液和脑脊液生物标志物的文献。信息已整理成表格,以便以务实的方式讨论证据并为未来研究提出实用建议。尽管也发现了代表抗氧化剂和生长因子途径的其他分析物的变化,但许多已发表的标志物都集中在代谢和炎症途径上。最有前景的标志物反映了神经元和神经胶质细胞的退化,特别是神经丝轻链。开展国际合作以规范检测方法和研究方案,并招募足够大的队列,将有助于未来生物标志物的发现和开发。