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

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

Quantitative Health Sciences

Research output: Contribution to journal › Review article › peer-review

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.

Original language	English (US)
Pages (from-to)	84-90
Number of pages	7
Journal	Current Opinion in Genetics and Development
Volume	65
DOIs	https://doi.org/10.1016/j.gde.2020.05.002
State	Published - Dec 2020

ASJC Scopus subject areas

Genetics
Developmental Biology

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10.1016/j.gde.2020.05.002

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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.",

author = "Alexandre Jourdon and Liana Fasching and Soraya Scuderi and Alexej Abyzov and Vaccarino, {Flora M.}",

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AU - Jourdon, Alexandre

AU - Fasching, Liana

AU - Scuderi, Soraya

AU - Abyzov, Alexej

AU - Vaccarino, Flora M.

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Y1 - 2020/12

N2 - 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.

AB - 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.

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The role of somatic mosaicism in brain disease

Abstract

ASJC Scopus subject areas

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