Divergent somatic mutation patterns among human cerebellar neuron types.

ABSTRACT: Neurons in the human brain accumulate somatic mutations with age. However, it is largely unknown how somatic mutation rates and patterns vary among the brain's diverse types of neurons. Characterizing this variability is critical for elucidating the role of genome integrity in human brain function and disease. Moreover, the significant physiological differences among the brain's cell types provides an opportunity to learn more general underlying factors that determine mutation rates and patterns. Here, we utilized high-fidelity duplex DNA sequencing to profile somatic mutation processes across the lifespan in the two major cell types of the human cerebellum, Purkinje neurons and granule neurons, which have dramatically different sizes, functions, and physiologies. Surprisingly, these cell

SUBMITTER: Gronska-Peski M 

PROVIDER: S-EPMC12622032 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature