Functional genomic analyses of mitochondrial disorders

线粒体疾病的功能基因组分析

• 批准号: nhmrc : 1078273
• 负责人: A/Pr Aleksandra Filipovska
• 金额: $ 38.47万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2015
• 资助国家: 澳大利亚
• 起止时间: 2015-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/functional-genomic-analyses-mitochondrial-disorders/518571
• 关键词: Functional; genomic; analyses; mitochondrial; disorders

Mitochondria produce most of the energy required by our bodies. Mutations in genes that make mitochondrial proteins cause mitochondrial dysfunction and lead to neurodegenerative and muscular diseases. We will identify mutations in mitochondrial genes in members of different Bulgarian and Gypsy families and discovery the mechanisms by which the mutations lead to disease.

线粒体产生我们身体所需的大部分能量。制造线粒体蛋白质的基因突变会导致线粒体功能障碍，并导致神经退行性疾病和肌肉疾病。我们将在不同的保加利亚人和吉普赛人家庭的成员中识别线粒体基因的突变，并发现突变导致疾病的机制。