Department of Cellular, Computational and Integrative Biology, University of Trento, Via Sommarive 9, 38123 Trento, Italy.
Huntington and Rare Diseases Unit, IRCCS Casa Sollievo Della Sofferenza Research Hospital, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy.
Genes (Basel). 2022 Nov 3;13(11):2017. doi: 10.3390/genes13112017.
Whether as a cause or a symptom, RNA transcription is recurrently altered in pathologic conditions. This is also true for non-coding RNAs, with regulatory functions in a variety of processes such as differentiation, cell identity and metabolism. In line with their increasingly recognized roles in cellular pathways, RNAs are also currently evaluated as possible disease biomarkers. They could be informative not only to follow disease progression and assess treatment efficacy in clinics, but also to aid in the development of new therapeutic approaches. This is especially important for neurological and genetic disorders, where the administration of appropriate treatment during the disease prodromal stage could significantly delay, if not halt, disease progression. In this review we focus on the current status of biomarkers in Huntington's Disease (HD), a fatal hereditary and degenerative disease condition. First, we revise the sources and type of wet biomarkers currently in use. Then, we explore the feasibility of different RNA types (miRNA, ncRNA, circRNA) as possible biomarker candidates, discussing potential advantages, disadvantages, sources of origin and the ongoing investigations on this topic.
无论是作为病因还是症状，RNA 转录在病理条件下经常发生改变。非编码 RNA 也是如此，它们在多种过程中具有调节功能，如分化、细胞身份和代谢。与它们在细胞途径中日益被认识到的作用一致，RNA 也被评估为可能的疾病生物标志物。它们不仅可以在临床上提供有关疾病进展和评估治疗效果的信息，而且还可以帮助开发新的治疗方法。对于神经和遗传疾病来说尤其重要，因为在疾病前驱阶段给予适当的治疗可以显著延缓（如果不能阻止）疾病的进展。在这篇综述中，我们重点介绍亨廷顿病（HD）中生物标志物的现状，HD 是一种致命的遗传性和退行性疾病。首先，我们回顾了目前使用的湿生物标志物的来源和类型。然后，我们探讨了不同 RNA 类型（miRNA、ncRNA、circRNA）作为可能的生物标志物候选物的可行性，讨论了潜在的优点、缺点、来源以及在这一主题上的正在进行的研究。
