The role of mutant CYLD in frontotemporal dementia and motor neuron disease

CYLD突变在额颞叶痴呆和运动神经元疾病中的作用

• 批准号: nhmrc : 1140708
• 负责人: A/Pr Ian Blair
• 金额: $ 65.13万
• 依托单位: Australian National University
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/role-mutant-cyld-neuron-disease/1319296
• 关键词: role; mutant; CYLD; frontotemporal; dementia

We have identified a new gene that when mutated causes dementia and motor neuron disease (MND), diseases that are currently incurable. This project will examine how this mutated gene affects cell functions to cause nerve cell death, using cutting-edge cell and mouse models of disease, and find out whether people who have more common variants of this gene are at greater risk of developing dementia or MND. This knowledge is crucial for diagnosing and developing therapies for these disorders.

我们发现了一种新基因，该基因突变后会导致痴呆和运动神经元疾病 (MND)，这些疾病目前无法治愈。该项目将利用尖端的细胞和小鼠疾病模型来研究这种突变基因如何影响细胞功能从而导致神经细胞死亡，并找出具有这种基因更常见变体的人是否有更大的风险患上痴呆或运动神经元病。这些知识对于诊断和开发这些疾病的疗法至关重要。