The role of somatic mosaicism in brain disease.

The role of somatic mosaicism in brain disease.
Curr Opin Genet Dev. 2020 Jul 01;65:84-90
Authors: Jourdon A, Fasching L, Scuderi S, Abyzov A, Vaccarino FM
Abstract
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.
PMID: 32622340 [PubMed - as supplied by publisher]

Source: Current Opinion in Genetics and Development - June 30, 2020 Category: Genetics & Stem Cells Authors: Jourdon A, Fasching L, Scuderi S, Abyzov A, Vaccarino FM Tags: Curr Opin Genet Dev Source Type: research