Exome sequencing of tetraploid neurons from Alzheimer patients

An early pathological process affecting the brain of Alzheimers disease (AD) is the reactivation of the cell cycle in neurons followed by somatic neuronal tetraploidization (NT). NT also increases with age, and ageing has been shown to correlate with the accumulation of DNA somatic mutations. In this study, we have evaluated the presence of somatic mutations including single nucleotide variants and indels in genomic DNA from tetraploid neurons obtained from the parietal cortex of AD patients, compared with diploid neurons from control individuals and AD patients.