Research Topic Highlights
This collection of review articles explores recent advances and current understandings of somatic mutations acquired in human tissues during development, aging, and disease. Emerging next-generation and single-cell sequencing technologies have illuminated mutation patterns, mutation burdens, and their variability across tissues as well as their associations with aging, cancers, and non-cancerous diseases. The reviews describe how somatic mutations found early in life can profoundly impact later disease manifestations, including cancer and age-related degenerative disorders. Special attention is given to mitochondrial DNA mutations, mechanisms driving mutagenesis, and the significance of somatic mosaicism such as clonal hematopoiesis. Additionally, the collection emphasizes genomic integrity in post-mitotic cells, the role of oxidative stress, and implications for neuronal aging and neurological diseases. Collectively, these reviews highlight both technical challenges involved in somatic mutation detection and bioinformatics, as well as promising methodologies for future research that may lead towards personalized medicine strategies targeting healthy aging.
Context and Scope
Environmental and endogenous mutagens constantly buffet the genome of somatic cells. While DNA damage and subsequent mutation in somatic cells were first proposed as drivers of aging more than 60 years ago, our understanding of these processes has exploded in recent years due to technological breakthroughs related to ultra-deep DNA sequencing and single-cell genomics. We now know that somatic mutations accumulate during life across a wide swath of human cell types, including B-lymphocytes, hematopoietic stem cells, stem cells of the gastrointestinal tract, human neurons, and others. Analysis of the classes of somatic mutation present in a sample, called a mutation signature, allows somatic mutations to be read out as a record of the DNA damage and repair events that occurred during life. In addition to a possible role in normal aging, somatic mutations are involved in certain age-associated diseases.
The goal of this Research Topic is to collect a set of comprehensive and insightful reviews of the key areas of study regarding the role of somatic mutations in aging and disease. We hope these reviews will summarize recent developments in the field, and synthesize them in a way that elucidates the most fruitful paths forward.
We are interested in Conceptual Review Articles from researchers with established track records of contributions to the fields of DNA mutagenesis and somatic genome mosaicism as related to aging. Example topics for Review Articles may include:
• The characteristics of somatic mutations in a given system (organism, organ, or cell type)
• Mechanisms of somatic mutation
• Techniques to study somatic mosaicism (molecular or computational)
• Somatic mutation in diseases of aging
• The functional relevance of somatic mutation in aging
Research Topic Highlights
This collection of review articles explores recent advances and current understandings of somatic mutations acquired in human tissues during development, aging, and disease. Emerging next-generation and single-cell sequencing technologies have illuminated mutation patterns, mutation burdens, and their variability across tissues as well as their associations with aging, cancers, and non-cancerous diseases. The reviews describe how somatic mutations found early in life can profoundly impact later disease manifestations, including cancer and age-related degenerative disorders. Special attention is given to mitochondrial DNA mutations, mechanisms driving mutagenesis, and the significance of somatic mosaicism such as clonal hematopoiesis. Additionally, the collection emphasizes genomic integrity in post-mitotic cells, the role of oxidative stress, and implications for neuronal aging and neurological diseases. Collectively, these reviews highlight both technical challenges involved in somatic mutation detection and bioinformatics, as well as promising methodologies for future research that may lead towards personalized medicine strategies targeting healthy aging.
Context and Scope
Environmental and endogenous mutagens constantly buffet the genome of somatic cells. While DNA damage and subsequent mutation in somatic cells were first proposed as drivers of aging more than 60 years ago, our understanding of these processes has exploded in recent years due to technological breakthroughs related to ultra-deep DNA sequencing and single-cell genomics. We now know that somatic mutations accumulate during life across a wide swath of human cell types, including B-lymphocytes, hematopoietic stem cells, stem cells of the gastrointestinal tract, human neurons, and others. Analysis of the classes of somatic mutation present in a sample, called a mutation signature, allows somatic mutations to be read out as a record of the DNA damage and repair events that occurred during life. In addition to a possible role in normal aging, somatic mutations are involved in certain age-associated diseases.
The goal of this Research Topic is to collect a set of comprehensive and insightful reviews of the key areas of study regarding the role of somatic mutations in aging and disease. We hope these reviews will summarize recent developments in the field, and synthesize them in a way that elucidates the most fruitful paths forward.
We are interested in Conceptual Review Articles from researchers with established track records of contributions to the fields of DNA mutagenesis and somatic genome mosaicism as related to aging. Example topics for Review Articles may include:
• The characteristics of somatic mutations in a given system (organism, organ, or cell type)
• Mechanisms of somatic mutation
• Techniques to study somatic mosaicism (molecular or computational)
• Somatic mutation in diseases of aging
• The functional relevance of somatic mutation in aging
