Laboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
National Clinical Research Center for Geriatric, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, Chengdu, 610041, China.
J Neurol. 2023 May;270(5):2483-2503. doi: 10.1007/s00415-023-11572-x. Epub 2023 Jan 24.
Huntington's disease is a progressive neurodegenerative disease caused by mutation of the huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides an opportunity to intervene in the early stage of the disease course. Optimal biomarkers are of great value to reflect neuropathological and clinical progression and are sensitive to potential disease-modifying treatments. Blood-based biomarkers have the merits of minimal invasiveness, low cost, easy accessibility and safety. In this review, we summarized the updated development of blood-based biomarkers for HD from six aspects, including neuronal injuries, oxidative stress, endocrine functions, immune reactions, metabolism and differentially expressed miRNAs. The blood-based biomarkers presented and discussed in this review were close to clinical applicability and might facilitate clinical design as surrogate endpoints. Exploration and validation of robust blood-based biomarkers require further standard and systemic study design in the future.
亨廷顿病是一种由亨廷顿(HTT)基因突变引起的进行性神经退行性疾病。在症状出现前识别突变携带者为干预疾病早期进程提供了机会。最佳的生物标志物对于反映神经病理学和临床进展具有重要价值,并且对潜在的疾病修饰治疗敏感。基于血液的生物标志物具有微创、成本低、易于获取和安全的优点。在这篇综述中,我们从神经元损伤、氧化应激、内分泌功能、免疫反应、代谢和差异表达的 miRNA 六个方面总结了用于 HD 的基于血液的生物标志物的最新进展。本文介绍和讨论的基于血液的生物标志物接近临床实用性,可能有助于将其作为替代终点进行临床设计。未来需要进一步采用标准和系统的研究设计来探索和验证稳健的基于血液的生物标志物。