Cellular effects of glucocerebrosidase (GBA) mutations in Lewy body diseases

葡萄糖脑苷脂酶 (GBA) 突变对路易体疾病的细胞影响

• 批准号: nhmrc : 1008307
• 负责人: Prof Brett Garner
• 金额: $ 35万
• 依托单位: The University of New South Wales
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/cellular-effects-glucocerebrosidase-body-diseases/109301
• 关键词: Cellular; effects; glucocerebrosidase; GBA; mutations

Approximately 1 in 100 people are carriers of mutations in the glucocerebrosidase (GBA) gene and are at considerably greater risk of diseases characterised clinically by parkinsonism and by the presence of Lewy body-related pathology. This study will provide tissue-based evidence of the cellular lipid and protein changes relating to Lewy body formation in patients with GBA mutations, providing the information necessary to identify the pathways and mechanisms involved.

大约每100人中就有1人是葡萄糖脑苷酶（GBA）基因突变的携带者，并且患帕金森病和路易体相关病理的临床特征疾病的风险要大得多。本研究将为GBA突变患者中与路易体形成相关的细胞脂质和蛋白质变化提供基于组织的证据，为确定相关途径和机制提供必要的信息。