Investigating somatic aneuploidy in the brain: why we need a new model

Jimi L. Rosenkrantz, Lucia Carbone

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations


The steady occurrence of DNA mutations is a key source for evolution, generating the genomic variation in the population upon which natural selection acts. Mutations driving evolution have to occur in the oocytes and sperm in order to be transmitted to the next generation. Through similar mechanisms, mutations also accumulate in somatic cells (e.g., skin cells, neurons, lymphocytes) during development and adult life. The concept that somatic cells can collect new mutations with time suggests that we are a mosaic of cells with different genomic compositions. Particular attention has been recently paid to somatic mutations in the brain, with a focus on the relationship between this phenomenon and the origin of human diseases. Given this progressive accumulation of mutations, it is likely that an increased load of somatic mutations is present later in life and that this could be associated with late-life diseases and aging. In this review, we focus on a particular type of mutation: the loss and/or gain of whole chromosomes (i.e., aneuploidy) caused by errors in chromosomes segregation in neurons and glia. Currently, it is hard to grasp the functional impact of somatic mutation in the brain because we lack reliable estimates of the proportion of aneuploid cells in the normal brain across different ages. Here, we revisit the key studies that attempted to quantify the proportion of aneuploid cells in both normal and diseased brains and highlight the deep inconsistencies among the different studies done in the last 15 years. Finally, our review highlights several limitations of studies performed in human and rodent models and explores a possible translational role for non-human primates.

Original languageEnglish (US)
Pages (from-to)337-350
Number of pages14
Issue number3
StatePublished - Jun 1 2017


  • Aneuploidy
  • Glia
  • Neurons
  • Primates
  • Single-cell sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Investigating somatic aneuploidy in the brain: why we need a new model'. Together they form a unique fingerprint.

Cite this