Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada.
Pediatr Res. 2011 May;69(5 Pt 2):92R-100R. doi: 10.1203/PDR.0b013e318213565e.
Disruptions of genes that are involved in epigenetic functions are known to be causative for several mental retardation/intellectual disability (MR/ID) syndromes. Recent work has highlighted genes with epigenetic functions as being implicated in autism spectrum disorders (ASDs) and schizophrenia (SCZ). The gene-environment interaction is an important factor of pathogenicity for these complex disorders. Epigenetic modifications offer a mechanism by which we can explain how the environment interacts with, and is able to dynamically regulate, the genome. This review aims to provide an overview of the role of epigenetic deregulation in the etiopathology for neurodevelopment disease.
已知涉及表观遗传功能的基因紊乱是导致几种智力迟钝/智力残疾 (MR/ID) 综合征的原因。最近的研究强调了具有表观遗传功能的基因与自闭症谱系障碍 (ASD) 和精神分裂症 (SCZ) 有关。基因-环境相互作用是这些复杂疾病发病机制的一个重要因素。表观遗传修饰为我们提供了一种机制，可以解释环境如何与基因组相互作用，并能够动态调节基因组。本综述旨在概述表观遗传失调在神经发育疾病发病机制中的作用。
