Our brain cells have different genomes from one another. The study shows for the first time that mutations in somatic cells — that is, any cell in the body except sperm and eggs — are present in significant numbers in the brains of healthy people. These mutations appear to occur more often in the genes a neuron uses most. Patterns of mutation allow researchers to trace brain cell lineages.
The study, published Oct. 2 in Science, shows for the first time that mutations in somatic cells–that is, any cell in the body except sperm and eggs–are present in significant numbers in the brains of healthy people. This finding lays the foundation for exploring the role of these post-conception mutations in human development and disease.
“A lot of people have been asking lately whether somatic mutations contribute to a range of neurodevelopmental and neurodegenerative diseases, but they couldn’t answer the question because of the limitations of technology,” said the study’s co-senior author, Peter Park, associate professor of biomedical informatics at HMS.
Whatever happened to one gene, one protein? And all the other simplicities?