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基于循环游离DNA突变的组织损伤检测研究

兰诗诗 黄烨 王春晖 张红星

军事医学2025,Vol.49Issue(5):337-348,12.
军事医学2025,Vol.49Issue(5):337-348,12.DOI:10.7644/j.issn.1674-9960.2025.05.003

基于循环游离DNA突变的组织损伤检测研究

A research on tissue damage detection based on mutations in cell-free DNA

兰诗诗 1黄烨 1王春晖 1张红星1

作者信息

  • 1. 安徽医科大学基础医学院,合肥 230032||医学蛋白质组全国重点实验室,北京蛋白质组研究中心,国家蛋白质科学中心(北京),北京生命组学研究所,北京 102206
  • 折叠

摘要

Abstract

Objective To investigate the feasibility of using the cell-free DNA(cfDNA)carrying tissue-specific mutations as biomarkers for assessing the severity of exercise-induced tissue injury.Methods Based on a public gene expression database,ten tissue-specific and highly-expressed genes were selected for each of ten different human tissues.A total of 34 young healthy volunteers were recruited,and their peripheral blood samples were collected after running 5 km per day for one week.Genomic DNA from leukocytes,plasma exosomal RNA,and plasma cfDNA were extracted and subjected to high-throughput sequencing respectively.Tissue-specific somatic mutations in plasma exosomal RNA were identified,and the relationship between cfDNA carrying these mutations and traditional protein biomarkers was analyzed.Results Tissue-specific cfDNA mutations related to five tissues(myocardium,skeletal muscle,intestine,stomach,and kidney)were detected in more than five volunteers.The correlation coefficients between total plasma cfDNA levels and the levels of tissue-specific protein biomarkers associated with these five tissues were less than 0.3(n=34,r=-0.51-0.28,P=0.0022-0.65).Notably,for each specific tissue,the levels of tissue-specific cfDNA mutations were positively correlated with the corresponding protein biomarker levels,and correlation coefficients were over 0.8(n=7-13,r=0.81-0.92,P=9.0×10-4-0.020).Conclusion Tissue-specific cfDNA mutations may serve as novel potential biomarkers for non-invasive evaluation of exercise-related tissue injury.

关键词

测序/突变/循环游离DNA/组织特异性/损伤标志物

Key words

sequencing/mutation/cfDNA/tissue specificity/damage biomarkers

分类

临床医学

引用本文复制引用

兰诗诗,黄烨,王春晖,张红星..基于循环游离DNA突变的组织损伤检测研究[J].军事医学,2025,49(5):337-348,12.

军事医学

1674-9960

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