The role of somatic mosaicism in brain disease

Alexandre Jourdon; Liana Fasching; Soraya Scuderi; Alexej Abyzov; Flora M Vaccarino

doi:10.1016/j.gde.2020.05.002

The role of somatic mosaicism in brain disease

Curr Opin Genet Dev. 2020 Dec:65:84-90. doi: 10.1016/j.gde.2020.05.002. Epub 2020 Jul 1.

Authors

Alexandre Jourdon¹, Liana Fasching¹, Soraya Scuderi¹, Alexej Abyzov², Flora M Vaccarino³

Affiliations

¹ Child Study Center, Yale University, New Haven, CT 06520, USA.
² Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
³ Child Study Center, Yale University, New Haven, CT 06520, USA; Department of Neuroscience, Yale University, New Haven, CT 06520, USA. Electronic address: flora.vaccarino@yale.edu.

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Brain Diseases / genetics*
Brain Diseases / pathology*
DNA Repair
Humans
Mosaicism*

Abstract

Publication types

MeSH terms

Grants and funding