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Somatic mosaicism in the diseased brain
Ivan Y Iourov1,2,3, Svetlana G Vorsanova4,5, Oxana S Kurinnaia4,5
1Yurov's Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, Moscow, Russia. ivan.iourov@gmail.com.
Molecular Cytogenetics
|October 21, 2022
Summary
Brain cells can have different genomes due to somatic mosaicism, a factor in brain diseases. This review highlights genomic variations in diseased brains, suggesting mosaicism as a disease mechanism.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Human brain cells are not genetically identical.
- Intercellular genomic variability exists in normal and diseased brains.
- Somatic mosaicism contributes to brain disease etiology.
Purpose of the Study:
- Review brain-specific somatic mosaicism in the context of disease.
- Highlight overlooked genomic variations in brain disease research.
Main Methods:
- Overview of gene mutations, copy number variations, and chromosome abnormalities in diseased neural cells.
- Addressing chromosome instability in non-cancerous brain diseases.
- Theoretical analysis of mosaicism formation mechanisms.
Main Results:
- Gene mutations, copy number variations, and chromosome abnormalities are detected in diseased neural cells.
- Chromosome instability is observed in non-cancerous brain diseases.
- A genetic background for somatic mosaicism in the brain is likely.
Conclusions:
- Somatic mosaicism is a significant factor in brain diseases.
- Brain-specific genomic variations require further research.
- Somatic mosaicism is a potential mechanism underlying central nervous system disorders.
Keywords:
AneuploidyBrainChromosome instabilityCopy number variationsGene mutationsGenome instabilitySomatic mosaicism
