Jourdon Alexandre, Fasching Liana, Scuderi Soraya, Abyzov Alexej, Vaccarino Flora M
Child Study Center, Yale University, New Haven, CT 06520, USA.
Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Curr Opin Genet Dev. 2020 Dec;65:84-90. doi: 10.1016/j.gde.2020.05.002. Epub 2020 Jul 1.
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.
在本综述中，我们讨论了基因体细胞镶嵌现象的重要性及其对脑部疾病的影响。我们首先介绍不同类型的体细胞突变，以及它们在发育和生命周期中的频率与丰度。接着，我们描述DNA修复机制的缺陷如何影响它们的发生率。最后，我们阐述它们在大脑中的功能后果，并回顾近期研究，这些研究表明它们在几种神经发育、精神和神经退行性疾病中具有意想不到的重要性。
