Identification and characterisation of a novel Parkinson's disease gene

帕金森病新基因的鉴定和表征

• 批准号: nhmrc : 1041860
• 负责人: A/Pr Paul Lockhart
• 金额: $ 37.09万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-characterisation-novel-disease-gene/111404
• 关键词: Identification; characterisation; novel; Parkinson; disease

Parkinson’s disease (PD) is a complex neurological condition affecting 100,000 Australians. The primary clinical features of PD result from the selective loss of a specific type of neuron. These neurons make up less than 1% of the over 50 million neurons within the brain, and it is currently unclear why they are preferentially lost during disease development. We have identified a novel gene that causes early onset parkinsonism. This study will characterise the gene and determine what role it plays in the development of PD.

帕金森病（PD）是一种复杂的神经系统疾病，影响着10万澳大利亚人。PD的主要临床特征是由于特定类型神经元的选择性丧失。这些神经元在大脑中超过5000万个神经元中占不到1%，目前还不清楚为什么它们在疾病发展过程中优先丢失。我们已经发现了一个新的基因，导致早发性帕金森症。这项研究将验证该基因，并确定它在PD的发展中起什么作用。