The effects of ?-actinin-3 on muscle metabolism, human health and disease

β-actinin-3 对肌肉代谢、人类健康和疾病的影响

• 批准号: nhmrc : 1062500
• 负责人: Dr Kate Quinlan
• 金额: $ 42.88万
• 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: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/effects-actinin-3-health-disease/454996
• 关键词: effects; actinin; muscle; metabolism; human

We have identified a common genetic variant that results in absence of the fast muscle fibre protein ?-actinin-3 in more than one billion humans worldwide. Loss of ?-actinin-3 influences elite athletic performance, muscle bulk and strength in the general population, response to diet and exercise, and susceptibility to obesity and developing type 2 diabetes. We have also demonstrated that ?-actinin-3 influence disease severity in a variety of inherited and acquired muscle disorders.

我们已经确定了一种常见的基因变异，导致缺乏快速肌肉纤维蛋白质。-肌动蛋白-3在全球超过10亿人体内损失？-肌动素-3影响精英运动员的运动表现、普通人群的肌肉量和力量、对饮食和运动的反应以及对肥胖和2型糖尿病的易感性。我们也证明了？-肌动蛋白-3影响多种遗传性和获得性肌肉疾病的严重程度。