Department of Pharmceutical and Pharmacological Sciences, University of Padua, Padua, Italy.
Department of Cardiac Thoracic Vascular Sciences and Public Health, University of Padua, Padua, Italy.
J Cachexia Sarcopenia Muscle. 2024 Jun;15(3):770-780. doi: 10.1002/jcsm.13455. Epub 2024 Mar 29.
Sarcopenia, a musculoskeletal disease characterized by the progressive loss of skeletal muscle mass, strength, and physical performance, presents significant challenges to global public health due to its adverse effects on mobility, morbidity, mortality, and healthcare costs. This comprehensive review explores the intricate connections between sarcopenia and low birth weight (LBW), emphasizing the developmental origins of health and disease (DOHaD) hypothesis, inflammatory processes (inflammaging), mitochondrial dysfunction, circadian rhythm disruptions, epigenetic mechanisms, and genetic variations revealed through genome-wide studies (GWAS). A systematic search strategy was developed using PubMed to identify relevant English-language publications on sarcopenia, LBW, DOHaD, inflammaging, mitochondrial dysfunction, circadian disruption, epigenetic mechanisms, and GWAS. The publications consist of 46.2% reviews, 21.2% cohort studies, 4.8% systematic reviews, 1.9% cross-sectional studies, 13.4% animal studies, 4.8% genome-wide studies, 5.8% epigenome-wide studies, and 1.9% book chapters. The review identified key factors contributing to sarcopenia development, including the DOHaD hypothesis, LBW impact on muscle mass, inflammaging, mitochondrial dysfunction, the influence of clock genes, the role of epigenetic mechanisms, and genetic variations revealed through GWAS. The DOHaD theory suggests that LBW induces epigenetic alterations during foetal development, impacting long-term health outcomes, including the early onset of sarcopenia. LBW correlates with reduced muscle mass, grip strength, and lean body mass in adulthood, increasing the risk of sarcopenia. Chronic inflammation (inflammaging) and mitochondrial dysfunction contribute to sarcopenia, with LBW linked to increased oxidative stress and dysfunction. Disrupted circadian rhythms, regulated by genes such as BMAL1 and CLOCK, are associated with both LBW and sarcopenia, impacting lipid metabolism, muscle mass, and the ageing process. Early-life exposures, including LBW, induce epigenetic modifications like DNA methylation (DNAm) and histone changes, playing a pivotal role in sarcopenia development. Genome-wide studies have identified candidate genes and variants associated with lean body mass, muscle weakness, and sarcopenia, providing insights into genetic factors contributing to the disorder. LBW emerges as a potential early predictor of sarcopenia development, reflecting the impact of intrauterine exposures on long-term health outcomes. Understanding the complex interplay between LBW with inflammaging, mitochondrial dysfunction, circadian disruption, and epigenetic factors is essential for elucidating the pathogenesis of sarcopenia and developing targeted interventions. Future research on GWAS and the underlying mechanisms of LBW-associated sarcopenia is warranted to inform preventive strategies and improve public health outcomes.
肌肉减少症是一种以骨骼肌质量、力量和身体机能进行性丧失为特征的肌肉骨骼疾病,由于其对移动能力、发病率、死亡率和医疗保健成本的不利影响,给全球公共卫生带来了重大挑战。本综述探讨了肌肉减少症与低出生体重(LBW)之间的复杂联系,强调了健康与疾病的发育起源(DOHaD)假说、炎症过程(炎性衰老)、线粒体功能障碍、昼夜节律紊乱、表观遗传机制以及通过全基因组研究(GWAS)揭示的遗传变异。使用 PubMed 制定了系统的搜索策略,以确定有关肌肉减少症、LBW、DOHaD、炎性衰老、线粒体功能障碍、昼夜节律紊乱、表观遗传机制和 GWAS 的相关英文出版物。这些出版物包括 46.2%的综述、21.2%的队列研究、4.8%的系统评价、1.9%的横断面研究、13.4%的动物研究、4.8%的全基因组研究、5.8%的表观基因组研究和 1.9%的书籍章节。该综述确定了导致肌肉减少症发展的关键因素,包括 DOHaD 假说、LBW 对肌肉质量的影响、炎性衰老、线粒体功能障碍、时钟基因的影响、表观遗传机制的作用以及通过 GWAS 揭示的遗传变异。DOHaD 理论表明,LBW 在胎儿发育过程中诱导表观遗传改变,影响长期健康结果,包括肌肉减少症的早期发病。LBW 与成年人的肌肉质量、握力和瘦体重减少相关,增加了肌肉减少症的风险。慢性炎症(炎性衰老)和线粒体功能障碍导致肌肉减少症,LBW 与氧化应激和功能障碍增加相关。由 BMAL1 和 CLOCK 等基因调节的昼夜节律紊乱与 LBW 和肌肉减少症相关,影响脂质代谢、肌肉质量和衰老过程。生命早期暴露,包括 LBW,会诱导 DNA 甲基化(DNAm)和组蛋白变化等表观遗传修饰,在肌肉减少症的发展中发挥关键作用。全基因组研究已经确定了与瘦体重、肌肉无力和肌肉减少症相关的候选基因和变体,为理解导致该疾病的遗传因素提供了线索。LBW 是肌肉减少症发展的一个潜在早期预测指标,反映了宫内暴露对长期健康结果的影响。了解 LBW 与炎性衰老、线粒体功能障碍、昼夜节律紊乱和表观遗传因素之间的复杂相互作用对于阐明肌肉减少症的发病机制和制定针对性干预措施至关重要。有必要对 GWAS 和与 LBW 相关的肌肉减少症的潜在机制进行进一步研究,以为预防策略提供信息并改善公共卫生结果。