肌少症的多组学方法研究进展

doi:10.3969/j.issn.1003-9198.2025.10.005

摘要/Abstract

摘要： 肌少症是一种与年龄相关的退行性疾病,其特征表现为骨骼肌质量与功能的进行性减退。近年来,尽管针对肌少症发病机制的研究已取得显著进展,但其根本病因及分子机制仍未完全阐明。肌少症的病因机制涉及复杂的调控网络。随着高通量技术的发展,组学技术凭借其强大的系统性分析能力,已成为探索肌少症潜在生物标志物及相关分子机制的重要工具。本文综述了多种组学方法(包括基因组学、转录组学、蛋白质组学、代谢组学)在肌少症研究中的应用现状与最新进展,旨在为未来研究提供理论依据和新思路,促进肌少症治疗靶点与生物标志物的发现。

关键词: 肌少症, 基因组学, 转录组学, 蛋白质组学, 代谢组学

Abstract: Sarcopenia is an age-related degenerative disease characterized by progressive loss of skeletal muscle mass and function. In recent years, although significant progress has been made in the research on the pathogenesis of sarcopenia, its fundamental etiology and molecular mechanisms have not been fully clarified, and it involves a complex regulatory network. With the development of high-throughput technology, omics technology, with its powerful systematic analysis capabilities, has become an important tool for exploring potential biomarkers and related molecular mechanisms of sarcopenia. This paper reviews the current application status and latest progress of various omics methods (including genomics, transcriptomics, proteomics, and metabolomics) in sarcopenia research. This review aims to provide theoretical basis and new ideas for future research, promote the discovery of therapeutic targets and biomarkers, which has significant scientific value for the development of novel intervention strategies.

Key words: sarcopenia, genomics, transcriptomics, proteomics, metabolomics

中图分类号:

R 746

廖绪豪, 张飞, 张璇, 王佳贺. 肌少症的多组学方法研究进展[J]. 实用老年医学, 2025, 39(10): 992-996.

LIAO Xuhao, ZHANG Fei, ZHANG Xuan, WANG Jiahe. Advances in multi-omics approaches to sarcopenia[J]. Practical Geriatrics, 2025, 39(10): 992-996.

参考文献

[1] CRUZ-JENTOFT A J, BAHAT G, BAUER J, et al. Sarcopenia: revised European consensus on definition and diagnosis[J]. Age Ageing, 2019, 48(1): 16-31.
[2] YUAN S, LARSSON S C. Epidemiology of sarcopenia: prevalence, risk factors, and consequences[J]. Metabolism, 2023, 144: 155533.
[3] FENG L, GAO Q, HU K, et al. Prevalence and risk factors of sarcopenia in patients with diabetes: a meta-analysis[J]. J Clin Endocrinol Metab, 2022, 107(5): 1470-1483.
[4] SHACHAR S S, WILLIAMS G R, MUSS H B, et al. Prognostic value of sarcopenia in adults with solid tumours: a meta-analysis and systematic review[J]. Eur J Cancer, 2016, 57: 58-67.
[5] CHO M R, LEE S, SONG S K. A review of sarcopenia pathophysiology, diagnosis, treatment and future direction[J]. J Korean Med Sci, 2022, 37(18): e146.
[6] CHEN T P, KAO H H, OGAWA W, et al. The Asia-Oceania consensus: definitions and diagnostic criteria for sarcopenic obesity[J]. Obes Res Clin Pract, 2025, 19(3): 185-192.
[7] NAJM A, NICULESCU A G, GRUMEZESCU A M, et al. Emerging therapeutic strategies in sarcopenia: an updated review on pathogenesis and treatment advances[J]. Int J Mol Sci, 2024, 25(8): 4300.
[8] 冉姝, 何笑, 蒋自璇, 等. 全基因组关联分析显示基因ANXA8和C10orf11为影响肌少症的候选基因[J]. 上海理工大学学报, 2020, 42(3): 305-310.
[9] YANG F, ZHANG X, DAI W, et al. Multivariate genome-wide analysis of sarcopenia reveals genetic comorbidity with urological diseases[J]. Exp Gerontol, 2025, 206: 112783.
[10] JONES G, TRAJANOSKA K, SANTANASTO A J, et al. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women[J]. Nat Commun, 2021, 12(1): 654.
[11] WU J, CHEN X, LI R, et al. Identifying genetic determinants of sarcopenia-related traits: a Mendelian randomization study of druggable genes[J]. Metabolism, 2024, 160: 155994.
[12] FURUTANI M, SUGANUMA M, AKIYAMA S, et al. RNA-sequencing analysis identification of potential biomarkers for diagnosis of sarcopenia[J]. J Gerontol A Biol Sci Med Sci, 2023, 78(11): 1991-1998.
[13] XU Q, ZHAO Q G, MA X L, et al. Exome-wide sequencing study identified genetic variants associated with sarcopenic obesity[J]. J Gerontol A Biol Sci Med Sci, 2024, 79(4): glae025.
[14] RAN S, HE X, JIANG Z X, et al. Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese[J]. Mol Genet Genomic Med, 2020, 8(8): e1267.
[15] LEE J, KANG H. Role of microRNAs and long non-coding RNAs in sarcopenia[J]. Cells, 2022, 11(2): 187.
[16] VOISIN S, JACQUES M, LANDEN S, et al. Meta-analysis of genome-wide DNA methylation and integrative omics of age in human skeletal muscle[J]. J Cachexia Sarcopenia Muscle, 2021, 12(4): 1064-1078.
[17] KIM S, GU B, SO C Y, et al. Cdkn1a silencing restores myoblast differentiation by inducing selective apoptosis in senescent cells[J]. Cell Mol Biol Lett, 2025, 30(1): 53.
[18] PEREZ K, CIOTLOS S, MCGIRR J, et al. Single nuclei profiling identifies cell specific markers of skeletal muscle aging, frailty, and senescence[J]. Aging, 2022, 14(23): 9393-9422.
[19] LI L, GUAN X, HUANG Y, et al. Identification of key genes and signaling pathways based on transcriptomic studies of aerobic and resistance training interventions in sarcopenia in SAMP8 mice[J]. Sports Med Health Sci, 2024, 6(4): 358-369.
[20] FOCHI S, GIURIATO G, DE SIMONE T, et al. Regulation of microRNAs in satellite cell renewal, muscle function, sarcopenia and the role of exercise[J]. Int J Mol Sci, 2020, 21(18): 6732.
[21] GUO M, YAO J, LI J, et al. Irisin ameliorates age-associated sarcopenia and metabolic dysfunction[J]. J Cachexia Sarcopenia Muscle, 2023, 14(1): 391-405.
[22] HAN S, ZHAO X, YU C, et al. Nestin regulates autophagy-dependent ferroptosis mediated skeletal muscle atrophy by ubiquitinating MAP 1LC3B[J]. J Cachexia Sarcopenia Muscle, 2025, 16(2): e13779.
[23] KIM H, RANJIT R, CLAFLIN D R, et al. Unacylated ghrelin protects against age-related loss of muscle mass and contractile dysfunction in skeletal muscle[J]. Aging Cell, 2024, 23(12): e14323.
[24] CROMBIE E M, KIM S, ADAMSON S, et al. Activation of eIF4E-binding-protein-1 rescues mTORC1-induced sarcopenia by expanding lysosomal degradation capacity[J]. J Cachexia Sarcopenia Muscle, 2023, 14(1): 198-213.
[25] LIU G, JIANG S, XIE W, et al. Biomarkers for sarcopenia, muscle mass, muscle strength, and physical performance: an umbrella review[J]. J Transl Med, 2025, 23(1): 650.
[26] HAM D J, BÖRSCH A, LIN S, et al. The neuromuscular junction is a focal point of mTORC1 signaling in sarcopenia[J]. Nat Commun, 2020, 11(1): 4510.
[27] UEZUMI A, IKEMOTO-UEZUMI M, ZHOU H, et al. Mesenchymal Bmp3b expression maintains skeletal muscle integrity and decreases in age-related sarcopenia[J]. J Clin Invest, 2021, 131(1): e139617.
[28] MA Y, LIU Y, ZHENG J, et al. Clinical significance of serum irisin, 25(OH)D3 and albumin in older adults with chronic disease and sarcopenia[J]. Aging Clin Exp Res, 2025, 37(1): 153.
[29] ERDOGAN K, YAVUZ VEIZI B G, DEMIRCI S, et al. The association between serum zonulin levels and sarcopenia in older adults: how does intestinal permeability affect sarcopenia?[J]. Clin Nutr, 2025, 51: 206-211.
[30] JIAO X F, MU G J, ZHAO W Y, et al. Dyrk1b as a potential biomarker for sarcopenia in older adults[J]. BMC Geriatr, 2025, 25(1): 278.
[31] CHEN Y Y, KAO T W, CHIU Y L, et al. Association between interleukin-12 and sarcopenia[J]. J Inflamm Res, 2021, 14: 2019-2029.
[32] SONG Q, ZHU Y, LIU X, et al. Changes in the gut microbiota of patients with sarcopenia based on 16S rRNA gene sequencing: a systematic review and meta-analysis[J]. Front Nutr, 2024, 11: 1429242.
[33] YIN P, CHEN M, RAO M, et al. Deciphering immune landscape remodeling unravels the underlying mechanism for synchronized muscle and bone aging[J]. Adv Sci, 2024, 11(5): e2304084.