Abstract
Plasma cell-free DNA (cfDNA) is frequently analyzed using liquid biopsy to investigate cancer markers. We hypothesized that this concept might be applicable in exercise physiology. Here, we aimed to identify specific cfDNA (spcfDNA) sequences in the plasma of healthy humans using next-generation sequencing (NGS) and clearly define the dynamics regarding spcfDNA-fragment levels upon extreme exercises, such as running a full marathon. NGS analysis was performed using cfDNA of pooled plasma collected from healthy participants. We confirmed that the TaqMan-qPCR assay had high sensitivity and found that the spcfDNA sequence abundance was 16,600-fold higher than that in a normal genomic region. We then used the TaqMan-qPCR assay to investigate the dynamics of spcfDNA-fragment levels upon running a full marathon. The spcfDNA fragment levels were significantly increased post-marathon. Furthermore, spcfDNA fragment levels were strongly correlated with white blood cell and plasma myoglobin concentrations. These results suggest the spcfDNA fragments identified in this study were highly sensitive as markers of extreme physical stress. The findings of this study may provide new insights into exercise physiology and genome biology in humans.
Highlights
In recent years, many studies using plasma cell-free DNA have been conducted in cancer research and are associated with the concept of liquid biopsy being a minimally invasive method
We investigated the presence of specific cfDNA (spcfDNA) fragments in healthy human participants
The results revealed some spcfDNA sequences through next-generation sequencing (NGS) and bioinformatics analyses (Figure 3a,b)
Summary
Many studies using plasma cell-free DNA (cfDNA) have been conducted in cancer research and are associated with the concept of liquid biopsy being a minimally invasive method. These studies are based on the physiological phenomenon of mutated DNA fragments of dead cancer cells leaking into the blood and remaining in the plasma. These fragments can be detected as biomarkers of cancer outbreak and progression in patients with cancer [1,2,3]. In recent years, plasma cfDNA has been used and allows cancer parameters to be evaluated by employing minimally invasive methods without the need for tissue biopsy
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