Ageing Research Reviews ( IF 13.1 ) Pub Date : 2020-05-19 , DOI: 10.1016/j.arr.2020.101069 Davin Lee 1 , Yoon Ha Choi 2 , Jinsoo Seo 1 , Jong Kyoung Kim 2 , Sung Bae Lee 1
Treatment options for many neurodegenerative diseases are limited due to the lack of early diagnostic procedures that allow timely delivery of therapeutic agents to affected neurons prior to cell death. While notable advances have been made in neurodegenerative disease biomarkers, whether or not the biomarkers discovered to date are useful for early diagnosis remains an open question. Additionally, the reliability of these biomarkers has been disappointing, due in part to the large dissimilarities between the tissues traditionally used to source biomarkers and primarily diseased neurons. In this article, we review the potential viability of atypical epigenetic and/or consequent transcriptional alterations (ETAs) as biomarkers of early-stage neurodegenerative disease, and present our perspectives on the discovery and practical use of such biomarkers in patient-derived neural samples using single-cell level analyses, thereby greatly enhancing the reliability of biomarker application.
中文翻译:
发现新的基于表观基因组学的生物标志物并早期诊断神经退行性疾病。
由于缺乏早期诊断程序,因此许多神经退行性疾病的治疗选择受到限制,这些早期诊断程序无法在细胞死亡之前将治疗剂及时递送至受影响的神经元。尽管神经退行性疾病生物标志物已取得显着进展,但迄今为止发现的生物标志物是否可用于早期诊断仍是一个悬而未决的问题。另外,这些生物标志物的可靠性令人失望,部分原因是传统上用于获取生物标志物的组织与主要患病的神经元之间的巨大差异。在本文中,我们回顾了非典型表观遗传和/或随后的转录改变(ETA)作为早期神经退行性疾病的生物标志物的潜在可行性,