肌肉减少症的病理生理学:遗传因素及其与环境因素的相互作用。

Pathophysiology of sarcopenia: Genetic factors and their interplay with environmental factors.

机构信息

College of Pharmacy, Chonnam National University, Gwangju, Republic of Korea.

College of Pharmacy, Chonnam National University, Gwangju, Republic of Korea.

出版信息

Metabolism. 2023 Dec;149:155711. doi: 10.1016/j.metabol.2023.155711. Epub 2023 Oct 21.

Abstract

Sarcopenia is a geriatric disorder characterized by a progressive decline in muscle mass and function. This disorder has been associated with a range of adverse health outcomes, including fractures, functional deterioration, and increased mortality. The pathophysiology of sarcopenia is highly complex and multifactorial, involving both genetic and environmental factors as key contributors. This review consolidates current knowledge on the genetic factors influencing the pathogenesis of sarcopenia, particularly focusing on the altered gene expression of structural and metabolic proteins, growth factors, hormones, and inflammatory cytokines. While the influence of environmental factors such as physical inactivity, chronic diseases, smoking, alcohol consumption, and sleep disturbances on sarcopenia is relatively well understood, there is a dearth of studies examining their mechanistic roles. Therefore, this review emphasizes the interplay between genetic and environmental factors, elucidating their cumulative role in exacerbating the progression of sarcopenia beyond their individual effects. The unique contribution of this review lies in synthesizing the latest evidence on the genetic factors and their interaction with environmental factors, aiming to inform the development of novel therapeutic or preventive interventions for sarcopenia.

摘要

肌肉减少症是一种以肌肉质量和功能进行性下降为特征的老年疾病。这种疾病与一系列不良健康结果有关,包括骨折、功能恶化和死亡率增加。肌肉减少症的病理生理学非常复杂,涉及多种遗传和环境因素,这些因素是主要的促成因素。这篇综述总结了目前关于影响肌肉减少症发病机制的遗传因素的知识,特别是重点关注结构和代谢蛋白、生长因子、激素和炎性细胞因子的基因表达改变。虽然人们对环境因素(如身体活动不足、慢性疾病、吸烟、饮酒和睡眠障碍)对肌肉减少症的影响有了较为深入的了解,但对于这些因素的机制作用的研究还很匮乏。因此,这篇综述强调了遗传和环境因素之间的相互作用,阐明了它们在加剧肌肉减少症进展方面的累积作用,超出了它们各自的影响。这篇综述的独特之处在于综合了最新的关于遗传因素及其与环境因素相互作用的证据,旨在为肌肉减少症的新型治疗或预防干预措施的开发提供信息。

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