遗传

• 综述 •    

肌肉减少症的发病机制和风险因素

李欣然1,2,冯彦涵1,2,夏梽丹1,2   

  1. 1. 浙江大学医学院第二附属医院,杭州 310058 


    2. 浙江大学营养与食品安全研究所,杭州 310058

  • 收稿日期:2025-04-16 修回日期:2025-06-26 出版日期:2025-07-02 发布日期:2025-07-02
  • 基金资助:
    国家自然科学基金面上项目;科技部外专交流项目

Pathogenesis and risk factors of sarcopenia

Xinran Li1,2, Yanhan Feng1,2, Zhidan Xia1,2   

  1. 1.The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310058, China 


    2.Institute of Nutrition and Food Safety, Zhejiang University, Hangzhou 310058, China

  • Received:2025-04-16 Revised:2025-06-26 Published:2025-07-02 Online:2025-07-02

摘要: 肌肉减少症(sarcopenia)简称"肌少症",是以骨骼肌质量与功能进行性丧失为特征的年龄相关性退行性疾病,可引发跌倒、失能及全因死亡率递增等严重临床结局,显著降低老年群体生存质量;随着我国步入老龄化社会,肌少症将逐渐成为多数人群面临的健康威胁。本文系统归纳了导致肌少症的发病机制,指出代谢失衡和细胞氧化应激是肌肉功能退化的重要诱因,通过分析生活方式、生理特征和遗传因素的协同作用,阐释了人群易感性和疾病进展的病因学基础;重点总结了多个基因在维持肌肉功能中的作用,结合人群队列和动物模型研究阐明相关基因突变与肌少症的风险联系,同时揭示表观遗传因素对肌肉代谢和衰老的调控机制;此外,综合探讨了药物治疗、营养支持及运动疗法的干预效果与临床转化瓶颈。本研究通过系统综述肌少症的核心机制和病因学依据,为疾病基础研究和临床防控优化提供了重要理论支持。

关键词: 肌肉功能, 衰老, 发病机制, 遗传调控

Abstract: Sarcopenia is an age-related degenerative disease characterized by progressive loss of skeletal muscle mass and function, resulting severe clinical outcomes such as falls, disability, and increased all-cause mortality, thereby significantly reducing the quality of life in elderly population. With China's rapid demographic aging, sarcopenia is emerging as a critical public health challenge. This review elaborates the pathogenesis of sarcopenia, identifying metabolic imbalance and cellular oxidative stress as major con-tributing factors to muscle degeneration. Also, this article indicates that life-style, physiological condition and genetic factors jointly influence the population susceptibility and progression of sarcopenia. On one hand, this article lists the non-genetic factors that accelerate the progression of sarcopenia; and on the other hand, it elaborates the role of multiple genes in maintaining muscle function, and the risk associations between genetic mutations and sarcopenia which has been revealed in studies from population cohort and animal models. Moreover, this article summarizes how epigenetic factors regulate muscle metabolism and aging, and comprehensively discusses the intervention effects and clinical limitations of treatment, nutritional support, and exercise therapy. By synthesizing these mechanistic insights and etiological evidence, our work provides a theoretical framework to advance both fundamental research and clinical strategies for sarcopenia prevention and management.

Key words: muscle function, aging, pathogenesis, genetic regulation