The effect of α-actinin 3 deficiency on regulation of skeletal muscle mass in health and disease.

α-肌动蛋白 3 缺乏症对健康和疾病中骨骼肌质量调节的影响。

• 批准号: nhmrc : GNT1114935
• 负责人: Mrs Kelly Roeszler
• 金额: $ 8.48万
• 依托单位国家: 澳大利亚
• 项目类别: Postgraduate Scholarships
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/effect-actinin-3-health-disease/1346936
• 关键词: effect; actinin; deficiency; regulation; skeletal

A common genetic variant results in absence of the fast muscle fibre protein α-actinin-3 in more than one billion humans worldwide. Loss of α-actinin-3 influences elite athletic performance, muscle bulk and strength in the general population, and disease severity in muscle wasting conditions. The goal of this study is to understand how α-actinin-3 regulates muscle mass so that individuals at increased risk of muscle wasting may be identified and treated accordingly.

一种常见的遗传变异导致全世界超过10亿人缺乏快速肌纤维蛋白α-辅肌动蛋白-3。α-辅肌动蛋白-3的丢失影响精英运动员的表现，一般人群的肌肉体积和力量，以及肌肉萎缩状况下的疾病严重程度。本研究的目的是了解α-辅肌动蛋白-3如何调节肌肉质量，以便识别肌肉萎缩风险增加的个体并进行相应治疗。