A research on tissue damage detection based on mutations in cell-free DNA
10.7644/j.issn.1674-9960.2025.05.003
- VernacularTitle:基于循环游离DNA突变的组织损伤检测研究
- Author:
Shishi LAN
1
;
Ye HUANG
;
Chunhui WANG
;
Hongxing ZHANG
Author Information
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
- Keywords:
sequencing;
mutation;
cfDNA;
tissue specificity;
damage biomarkers
- From:
Military Medical Sciences
2025;49(5):337-348
- CountryChina
- Language:Chinese
-
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.
