RockGen Therapeutics, LLC, Little Rock, AR, 72205, USA.
Department of Pharmacology and Toxicology, College of Medicine, University of Arkansas for Medical Sciences, AR, Little Rock, USA.
Metab Brain Dis. 2022 Aug;37(6):1697-1702. doi: 10.1007/s11011-021-00738-z. Epub 2021 Apr 27.
Amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease, leads to the loss of motor neurons. There are currently no effective therapies to treat this disease as the molecular mechanisms of motor neuron degeneration are largely unknown. The diagnosis of ALS, or motor neuron disease, is not a simple process that can be carried out with one doctor visit or a single simple test. This has created a major problem for patients with ALS and their physicians since they are often not diagnosed until about a year into the disease. In order to combat this issue, new techniques of detecting the clinical and pathological changes of the disease are critical. These techniques are currently being studied and developed which can revolutionize the diagnosis of ALS. Once this technology is established, it may have application to monitor the progression of the disease. RNA-Seq is a powerful tool that has potential to identify RNA as small molecules in patients' biological samples (Plasma, Cerebral Spinal Fluid) which can be used to inform the system changes in patients with ALS. In this review, we will explore and discuss our current work on RNA-Seq and its development of biomarkers to diagnose and assess the rate of progression in the disease.
肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病，导致运动神经元的丧失。目前尚无有效的治疗方法，因为运动神经元退化的分子机制在很大程度上尚不清楚。ALS 或运动神经元疾病的诊断并不是一个简单的过程，不能仅通过一次就诊或一次简单的检查来完成。由于 ALS 患者及其医生通常要到疾病发生一年后才能确诊，因此这对他们来说是一个重大问题。为了解决这个问题，检测疾病的临床和病理变化的新技术至关重要。目前正在研究和开发这些技术，它们可以彻底改变 ALS 的诊断。一旦这项技术建立起来，它可能会被用于监测疾病的进展。RNA-Seq 是一种强大的工具，具有在患者生物样本（血浆、脑脊液）中识别小分子 RNA 的潜力，可用于告知 ALS 患者的系统变化。在这篇综述中，我们将探讨和讨论我们目前在 RNA-Seq 及其生物标志物开发方面的工作，这些生物标志物可用于诊断和评估疾病的进展速度。
