The role of somatic mosaicism in brain disease

Alexandre Jourdon, Liana Fasching, Soraya Scuderi, Alexej Abyzov, Flora M. Vaccarino

Research output: Contribution to journalReview articlepeer-review


In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. We start from introducing the different types of somatic mutations, their frequencies and abundances across development and lifespan. We then describe how weakness in DNA repair mechanisms influences their prevalence. Finally, we address their functional consequences in the brain and review recent research showing their unsuspected importance in several neurodevelopmental, psychiatric, and neurodegenerative diseases.

Original languageEnglish (US)
Pages (from-to)84-90
Number of pages7
JournalCurrent Opinion in Genetics and Development
StatePublished - Dec 2020

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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