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RNA Dysregulation in ALS

ALS 中的 RNA 失调

基本信息

批准号：
7854890
负责人：
ROBERT B DARNELL
金额：
$ 50.24万
依托单位：
ROCKEFELLER UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-30 至 2011-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7854890
关键词：
Address Affect Aliquot American Amyotrophic Lateral Sclerosis Animals Autopsy Binding Sites Clinical Collection Complement Data Defect Development Diagnostic Disadvantaged Disease Exons Familial Amyotrophic Lateral Sclerosis Functional disorder Generations Genetic Variation Human Human Genetics Individual Intervention Laboratories Maps Mediating Methods MicroRNAs Modeling Motor Motor Neurons Mus Mutate Mutation Neocortex Neurons Pathogenesis Pathway interactions Patients Play RNA RNA Binding RNA Sequences RNA analysis RNA-Binding Proteins RNA-Protein Interaction Regulatory Pathway Role Sampling Site Techniques Technology Tissues Variant Work disease diagnosis genome wide association study genome-wide human tissue insight interest mouse model nervous system disorder next generation protein TDP-43 public health relevance research study stem therapeutic target

项目摘要

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.

描述（由申请人提供）：这是一项探索 RNA 失调在肌萎缩侧索硬化症 (ALS) 发病机制中的作用的提案。这项工作源于最近的发现，即罕见的家族性 ALS 患者的 RNA 结合蛋白发生突变。我们将使用新开发的方法来观察从 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越来越多与 RNA 失调相关的神经系统疾病的模型。公共卫生相关性：这项工作是对目前影响 20,000 多名美国人的致命人类神经系统疾病的研究。如果没有临床检查，就无法诊断该疾病，也没有治疗方法。这项工作为了解该疾病的病因、开发该疾病的诊断标记物和治疗靶点带来了希望。