The human body is constantly changing, and the traces of this are found in mutations that are inscribed in each cell. The efforts of international scientists to precisely track the somatic mutations that accumulate throughout a person's life have finally yielded results.
The research team formed to systematically analyze human mutations, known as the 'Somatic Mosaic Network across Human Tissues (SMaHT),' announced its first research findings, a 'map of somatic mutations,' in the international journal Nature on 3rd. This project, supported by the National Institutes of Health (NIH), also involved domestic researchers, including Professor Oh Ji-won from Yonsei University College of Medicine.
Throughout life, individuals accumulate mutations in the cells of their bodies. These somatic mutations are related to various diseases, including cancer, aging, and neurological disorders, but research has been limited to certain organs. A systematic analysis of where, how much, and how mutations occur in each organ of the human body has been almost nonexistent until now.
The research team conducted 'rapid autopsies' within 24 hours of death on the bodies of 150 adults without diseases, collecting tissues from a total of 19 sites, including the brain, heart, lungs, liver, skin, blood, and reproductive glands. This process was carried out in cooperation with the organ donation network, including Yonsei University College of Medicine, and institutions specialized in organ extraction.
By precisely analyzing the high-quality genomes collected in this way, they clarified the spatiotemporal characteristics of when and where somatic mutations occur in unprecedented high resolution. This achievement is significant as it established a map of somatic mutations that occur naturally in healthy humans. The data can serve as a critical resource for identifying the molecular causes of various diseases based on the genomes of healthy tissues.
Professor Oh Ji-won noted, "We captured even very subtle mutations using the latest genomic analysis technology, and in this process, we also observed a phenomenon called 'clonal expansion,' where groups of cells proliferate. This could provide clues for researching various diseases such as cancer, aging, heart disease, and dementia."
The large-scale data constructed through this study will be made available to researchers worldwide. It is expected to be utilized as foundational data to identify the fundamental causes of mutations and develop personalized treatment strategies.
References
Nature (2025), DOI: https://doi.org/10.1038/s41586-025-09096-7