具有功能干扰基因 (MSTN) 中功能干扰基因 (MSTN) 变异的人增加了骨肌肉质量和强度,并减少了脂肪
Joseph L Herman1, Peter Dornbos1, Karl Landheer1
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, NY, USA.
Nature communications
|March 14, 2026
概括
破坏神经静止素 (MSTN) 功能的遗传变异显著增加瘦肌量和握力,同时减少人体脂肪. 终身减少肌静止素活性可以提高肌肉大小和力量,提供治疗潜力.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 人体生理学 人体生理学
- 代谢健康 代谢健康
背景情况:
- 肌平素是骨肌肉质量的关键负调节剂.
- 针对肌肉静止素的治疗策略旨在促进肌肉生长.
- 肥胖相关的肌肉损失是一个越来越令人担忧的问题.
研究的目的:
- 为了研究功能破坏性突变在肌静止素基因 (MSTN) 对人体组成和心脏代谢健康的影响.
- 分析来自大型多队列遗传关联研究的数据.
- 描述MSTN变体对肌肉质量和脂肪的影响.
主要方法:
- 对110万个人的大规模遗传关联分析.
- 对MSTN基因中功能破坏性突变的分析.
- 来自英国生物库 (77572人) 的全身MRI数据,用于图像细分的深度学习.
主要成果:
- 功能破坏性MSTN变体的携带者表现出减少脂肪和增加肌肉质量.
- 在载体中观察到握力和肌素水平的增加.
- 核磁共振成像 (MRI) 数据显示,异构卵母携带者在多个群体的肌肉质量显著增加 (超过10%).
结论:
- 终身减少肌静止素功能可以提高人体肌肉的大小和强度.
- 这种减少与身体脂肪的减少有关.
- 这些发现支持长期肌肉静止素信号阻断疗法的潜在益处和安全性.
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