2023 Volume 34 Issue 4 Pages 156-160
Recent advances in genome analysis have revealed that somatic mosaicism, a specific condition of clonal hematopoiesis, increases with age and confers a risk of hematological malignancy in healthy individuals. Recent studies have demonstrated that somatic mutations occur in the normal brain neurons by different mechanisms and at different rates during development through ageing. Some mutations in normal brain were found to be involved in clonal hematopoiesis, such as DNMT3A. This result suggests that somatic mosaicism in neurons accumulate with age. Somatic mosaicism, from point mutations to large‐scale chromosomal alteration, are thought to be enriched in blood or neurons of neurodevelopmental diseases like autism spectrum disorder and schizophrenia, and may are related to the development of neurodevelopmental diseases. Here, we will present the somatic mosaicism in normal neurons and relationships between somatic mosaicism and neurodevelopment diseases.
