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

我们已经确定了一种新的基因，当它发生突变时，会导致目前无法治愈的痴呆症和运动神经元疾病（MND）。该项目将利用先进的细胞和小鼠疾病模型，研究这种突变基因如何影响细胞功能，导致神经细胞死亡，并找出拥有这种基因更多常见变体的人是否更容易患痴呆症或MND。这些知识对于诊断和开发这些疾病的治疗方法至关重要。

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.