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使用多组学方法对原发性肌肉减少症和终末期肾病相关肌肉消耗的比较分析

Comparative Analysis of Primary Sarcopenia and End-Stage Renal Disease-Related Muscle Wasting Using Multi-Omics Approaches.

作者信息

Setoyama Daiki, Han Dohyun, Tian Jingwen, Lee Ho Yeop, Shin Hyun Suk, Nga Ha Thi, Nguyen Thi Linh, Moon Ji Sun, Jang Hyo Ju, Kim Evonne, Choe Seong-Kyu, Ju Sang Hyeon, Choi Dae Eun, Kwon Obin, Yi Hyon-Seung

机构信息

Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.

Proteomics Core Facility, Seoul National University Hospital Biomedical Research Institute, Seoul, South Korea.

出版信息

J Cachexia Sarcopenia Muscle. 2025 Apr;16(2):e13749. doi: 10.1002/jcsm.13749.

Abstract

BACKGROUND

Age-related primary sarcopenia and end-stage renal disease (ESRD)-related muscle wasting are discrete entities; however, both manifest as a decline in skeletal muscle mass and strength. The etiological pathways differ, with aging factors implicated in sarcopenia and a combination of uremic factors, including haemodialysis, contributing to ESRD-related muscle wasting. Understanding these molecular nuances is imperative for targeted interventions, and the integration of proteomic and metabolomic data elucidate these intricate processes.

METHODS

We generated detailed clinical data and multi-omics data (plasma proteomics and metabolomics) for 78 participants to characterise sarcopenia (n = 28; mean age, 72.6 ± 7.0 years) or ESRD (n = 22; 61.6 ± 5.5 years) compared with controls (n = 28; 69.3 ± 5.7 years). Muscle mass was measured using bioelectrical impedance analysis and handgrip strength. Five-times sit-to-stand test performance was measured for all participants. Sarcopenia was diagnosed in accordance with the 2019 Consensus Guidelines from the Asian Working Group for Sarcopenia. An abundance of 234 metabolites and 722 protein groups was quantified in all plasma samples using liquid chromatography with tandem mass spectrometry.

RESULTS

Muscle mass, handgrip strength and lower limb muscle function significantly lower in the sarcopenia group and the ESRD group compared with those in the control group. Metabolomics revealed altered metabolites, highlighting exclusive differences in ESRD-related muscle wasting. Metabolite set enrichment analysis revealed the involvement of numerous metabolic intermediates associated with urea cycle, amino acid metabolism and nucleic acid metabolism. Catecholamines, including epinephrine, dopamine and serotonin, are significantly elevated in the plasma of patients within the ESRD group. Proteomics data exhibited a clearer distinction among the three groups compared with the metabolomics data, particularly in distinguishing the control group from the sarcopenia group. The ciliary neurotrophic factor receptor was top-ranked in terms of the variable importance of projection scores. Plasma AHNAK protein levels was higher in the sarcopenia group but was lower in the ESRD group. Proteomic set enrichment analysis revealed enrichment of several pathways related to sarcopenia, such as hemopexin, defence response and cell differentiation, in sarcopenia group. Multi-omic integration analysis revealed associations between relevant metabolites, including catecholamines, and a group of annotated proteins in extracellular exosomes.

CONCLUSIONS

We identified distinct multi-omic signatures in individuals with ESRD or sarcopenia, providing new insights into the mechanisms underlying ESRD-related muscle wasting, which differ from primary sarcopenia. These findings may support interventions for context-dependent muscle loss and contribute to the development of targeted treatments and preventive strategies for muscle wasting.

摘要

背景

与年龄相关的原发性肌肉减少症和终末期肾病(ESRD)相关的肌肉萎缩是不同的实体;然而,两者均表现为骨骼肌质量和力量的下降。病因途径不同,衰老因素与肌肉减少症有关,而包括血液透析在内的尿毒症因素共同导致ESRD相关的肌肉萎缩。了解这些分子细微差别对于有针对性的干预措施至关重要,蛋白质组学和代谢组学数据的整合阐明了这些复杂的过程。

方法

我们为78名参与者生成了详细的临床数据和多组学数据(血浆蛋白质组学和代谢组学),以对肌肉减少症患者(n = 28;平均年龄,72.6±7.0岁)或ESRD患者(n = 22;61.6±5.5岁)与对照组(n = 28;69.3±5.7岁)进行特征分析。使用生物电阻抗分析和握力测量肌肉质量。对所有参与者进行五次坐立试验。根据亚洲肌肉减少症工作组2019年的共识指南诊断肌肉减少症。使用液相色谱-串联质谱法对所有血浆样本中的234种代谢物和722个蛋白质组的丰度进行定量。

结果

与对照组相比,肌肉减少症组和ESRD组的肌肉质量、握力和下肢肌肉功能显著降低。代谢组学揭示了代谢物的改变,突出了ESRD相关肌肉萎缩的独特差异。代谢物集富集分析显示许多与尿素循环、氨基酸代谢和核酸代谢相关的代谢中间体参与其中。包括肾上腺素、多巴胺和血清素在内的儿茶酚胺在ESRD组患者的血浆中显著升高。与代谢组学数据相比,蛋白质组学数据在三组之间表现出更明显的差异,特别是在区分对照组和肌肉减少症组方面。睫状神经营养因子受体在投影得分的变量重要性方面排名第一。肌肉减少症组血浆AHNAK蛋白水平较高,而ESRD组较低。蛋白质组集富集分析显示肌肉减少症组中与肌肉减少症相关的几种途径富集,如血红素结合蛋白、防御反应和细胞分化。多组学整合分析揭示了包括儿茶酚胺在内的相关代谢物与细胞外囊泡中一组注释蛋白之间的关联。

结论

我们在ESRD或肌肉减少症患者中确定了独特的多组学特征,为ESRD相关肌肉萎缩的潜在机制提供了新的见解,这与原发性肌肉减少症不同。这些发现可能支持针对特定背景下肌肉损失的干预措施,并有助于制定针对肌肉萎缩的靶向治疗和预防策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c42f/11982700/6f7357b8e1a3/JCSM-16-e13749-g004.jpg

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