Epigenetic mechanisms of mental retardation.

Anne Schaefer, Alexander Tarakhovsky, Paul Greengard
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引用次数: 13

Abstract

Mental retardation is a common form of cognitive impairment affecting approximately 3% of the population in industrialized countries. The mental retardation syndrome incorporates a highly diverse group of mental disorders characterized by the combination of cognitive impairment and defective adaptive behavior. The genetic basis of the disease is strongly supported by identification of the genetic lesions associated with impaired cognition, learning, and social adaptation in many mental retardation syndromes. Several of the impaired genes encode epigenetic regulators of gene expression. These regulators exert their function through genome-wide posttranslational modification of histones or by mediating and/or recognizing DNA methylation. In this chapter, we review the most recent advances in the field of epigenetic mechanisms of mental retardation. In particular, we focus on animal models of the human diseases and the mechanism of transcriptional deregulation associated with changes in the cell epigenome.

智力迟钝的表观遗传机制。
智力迟钝是一种常见的认知障碍,影响着工业化国家约3%的人口。智力迟钝综合症是一种高度多样化的精神障碍,其特征是认知障碍和适应行为缺陷的结合。在许多智力迟钝综合征中,与认知、学习和社会适应受损相关的遗传病变的鉴定有力地支持了该病的遗传基础。一些受损基因编码基因表达的表观遗传调控因子。这些调节因子通过组蛋白的全基因组翻译后修饰或通过介导和/或识别DNA甲基化来发挥其功能。在这一章中,我们回顾了最近在智力迟钝的表观遗传机制领域的进展。特别是,我们专注于人类疾病的动物模型和与细胞表观基因组变化相关的转录失调机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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