The effects of ACTN3 R577X on muscle wasting and repair, and response to therapy

ACTN3 R577X 对肌肉消耗和修复以及治疗反应的影响

• 批准号: nhmrc : GNT1130215
• 负责人: A/Pr Paul Gregorevic
• 金额: $ 106.61万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/effects-actn3-r577x-response-therapy/1347798
• 关键词: effects; ACTN3; R577X; muscle; wasting

Complete loss of ACTN3 is normal and occurs in 1 in 5 people world-wide. While it does not cause disease, loss of ACTN3 results in ~10% reduction in muscle mass and strength. This has tremendous impact not only on the success of elite athletes but also the quality of life in people who are already frail. Precisely how ACTN3 affects muscle mass is unclear. Understanding this will help identify the patients who are at greater risk of muscle wasting and also the therapies that will best treat them.

ACTN3完全丧失是正常的，全世界五分之一的人会发生这种情况。虽然它不会引起疾病，但失去ACTN3会导致肌肉质量和力量减少约10%。这不仅对优秀运动员的成功产生了巨大的影响，而且对已经虚弱的人的生活质量也产生了巨大的影响。目前还不清楚ACTN3究竟是如何影响肌肉质量的。了解这一点将有助于确定哪些患者肌肉萎缩的风险更大，并找到最好的治疗方法。