ReviewExperimental & molecular medicine2016
Somatic mutations in disorders with disrupted brain connectivity.
Review in Experimental & molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.Nature neuroscience · 2025Article
- Translational Approach to Social Isolation During a Global Pandemic: Hippocampal Somatic Mutation and Stress.Psychiatry investigation · 2024Article
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.Experimental & molecular medicine · 2024Article
- Article
- Dissecting single-cell genomes through the clonal organoid technique.Experimental & molecular medicine · 2021Review
- Review
- Genetic and epigenetic Muller's ratchet as a mechanism of frailty and morbidity during aging: a demographic genetic model.Human genetics · 2020Article
- Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy.The Journal of clinical investigation · 2019Article
- Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.Nature communications · 2019Article
- Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion.Nature communications · 2019Article
- Somatic mutations in the human brain: implications for psychiatric research.Molecular psychiatry · 2019Review
- Brain Somatic Mutations in Epileptic Disorders.Molecules and cells · 2018Review
- Human glioblastoma arises from subventricular zone cells with low-level driver mutations.Nature · 2018Article
- Somatic mutations in neurons during aging and neurodegeneration.Acta neuropathologica · 2018Review
- Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.Science (New York, N.Y.) · 2017Review
- Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations occur during cell division in all somatic lineages. Because neurogenesis persists throughout human life, somatic mutations in the brain arise during development and accumulate with the aging process. The human brain consists of 100 billion neurons that form an extraordinarily intricate network of connections to achieve higher level cognitive functions. Due to this network architecture, perturbed neuronal functions are rarely restricted to a focal area; instead, they are often spread via the neuronal network to affect other connected areas. Although somatic diversity is an evident feature of the brain, the extent to which somatic mutations affect the neuronal structure and function and their contribution to neurological disorders associated with disrupted brain connectivity remain largely unexplored. Notably, recent reports indicate that brain somatic mutations can indeed play a critical role that leads to the structural and functional abnormalities of the brain observed in several neurodevelopmental disorders. Here, I review the extent and significance of brain somatic mutations and provide my perspective regarding these mutations as potential molecular lesions underlying relatively common conditions with disrupted brain connectivity. Moreover, I discuss emerging technical platforms that will facilitate the detection of low-frequency somatic mutations and validate the biological functions of the identified mutations in the context of brain connectivity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.