The Genetics and Pathophysiology of Spinocerebellar Degeneration

脊髓小脑变性的遗传学和病理生理学

• 批准号: G0802760/1
• 负责人: Henry Houlden
• 金额: $ 196.65万
• 依托单位: University College London
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2010
• 资助国家: 英国
• 起止时间: 2010 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0802760%2F1
• 关键词: Genetics; Pathophysiology; Spinocerebellar; Degeneration

With an ageing population, spinocerebellar ataxia (SCA) is an increasingly important problem with insidious progression and no specific treatment. The estimated prevalence in adults of non-acquired ataxia in the UK is 10,000 people (data from ataxia UK). This neurodegenerative disorder is selective and progressive causing neuronal loss in the cerebellum which defines the clinical and pathological picture. Genetic factors are known to render cerebellar neurons vulnerable to cell death but a large number of these factors are yet to be identified. In particular the common risk factors and disease modifiers of ataxia are poorly understood.Using established genomic methods, cerebellar expression techniques, cell culture models and neuropathological investigations we will identify the disease processes and pathways that lead to spinocerebellar degeneration. Understanding these biological processes will help form a network of pathways to investigate environmental causes of ataxia, allow the development of treatments to inhibit or reverse the disease process and precisely characterise patients for clinical trials.

随着人口老龄化，脊髓小脑性共济失调（SCA）是一个日益重要的问题，具有隐匿性进展且无特异性治疗。英国成人非获得性共济失调的估计患病率为10，000人（来自共济失调英国的数据）。这种神经退行性疾病是选择性和渐进性的，导致小脑中的神经元损失，其定义了临床和病理学图片。已知遗传因素使小脑神经元容易发生细胞死亡，但大量这些因素尚未被确定。特别是共济失调的常见危险因素和疾病修饰因子知之甚少。使用已建立的基因组方法，小脑表达技术，细胞培养模型和神经病理学研究，我们将确定导致脊髓小脑变性的疾病过程和途径。了解这些生物学过程将有助于形成一个途径网络来研究共济失调的环境原因，允许开发抑制或逆转疾病过程的治疗方法，并精确地为临床试验提供患者。