RNA Dysregulation in ALS

描述（由申请人提供）：这是一个探索RNA失调在肌萎缩侧索硬化（ALS）发病机制中的作用的建议。这项工作源于最近的发现，即罕见的家族性ALS患者在RNA结合蛋白中存在突变。我们将使用新开发的方法来研究从ALS小鼠模型和尸检获得的人类ALS样本中获得的组织中正常和异常的RNA-蛋白质相互作用。这项工作有可能揭示新的见解，以及ALS的诊断标志物和治疗靶点。此外，新方法和范例的使用将作为如何处理与RNA失调相关的神经系统疾病的模型。 公共卫生相关性：这项工作是一项研究，目前致命的人类神经系统疾病，目前影响超过20,000美国人。除了临床检查外，没有诊断这种疾病的手段，也没有治疗方法。这项工作提供了了解原因的希望，并为这种疾病开发诊断标记和治疗靶点。

DESCRIPTION (provided by applicant): This is a proposal to explore the role of RNA dysregulation in the pathogenesis of amyotrophic lateral sclerosis (ALS). The work stems from recent findings that rare patients with familial ALS have mutations in RNA binding proteins. We will use newly developed methods to look at normal and abnormal RNA-protein interactions in tissues obtained from mouse models of ALS and from human ALS samples obtained at autopsy. This work has the potential to uncover new insights, as well as diagnostic markers and therapeutic targets for ALS. In addition, the use of new methods and paradigms will serve as a model for how to approach a growing list of neurologic disorders associated with RNA dysregulation. PUBLIC HEALTH RELEVANCE: This work is a study of a currently fatal human neurologic disorder that currently affects over 20,000 Americans. There is no means of diagnosing the disease short of clinical examination, and there is no treatment. The work offers the hope of understanding the cause, and of developing diagnostic markers and therapeutic targets for the disorder.