PYROXD1 - A novel myopathy disease gene identifies a redox pathway essential for life

PYROXD1 - 一种新型肌病基因识别生命必需的氧化还原途径

• 批准号: nhmrc : 1143901
• 负责人: A/Pr Sandra Cooper
• 金额: $ 84.38万
• 依托单位: Australian National University
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2022-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/pyroxd1-novel-myopathy-essential-life/1320046
• 关键词: PYROXD1; novel; myopathy; disease; gene

An Australian family with a rare myopathy has led to the discovery of a new gene called PYROXD1; a gene that all cells need to survive. PYROXD1 plays a critical role in protecting cells from oxidative stress. We are using patient samples and mouse models to find out what PYROXD1 does that is vital for cell and animal life. We will test whether redox therapies developed for neurodegenerative disorders might help patients with rare neuromuscular disorders, for whom there are no treatment options.

一个患有罕见肌病的澳大利亚家庭发现了一种名为PYROXD1的新基因；这种基因是所有细胞生存所必需的。PYROXD1在保护细胞免受氧化应激中起着关键作用。我们正在使用患者样本和小鼠模型来找出PYROXD1对细胞和动物生命至关重要的作用。我们将测试为神经退行性疾病开发的氧化还原疗法是否可能帮助患有罕见的神经肌肉疾病的患者，这些患者没有治疗选择。