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引用次数: 17

摘要

智力迟钝(MR)是指一种病理状态,即受影响的个体患有认知障碍,其诊断标准是低智商(IQ)(< 70)。多年来,人类基因研究发现了大量导致MR的候选基因,但这些候选基因调节认知功能的机制仍然知之甚少。虽然MR基因的功能范围从细胞信号传导和基因表达到突触可塑性,但越来越多的证据支持表观遗传和染色质调节蛋白在MR中发挥关键作用,令人兴奋的是,最近的分子和遗传学研究表明,通过调节表观遗传调节因子改善认知功能的可能性,突出了治疗干预的潜在新途径。本文综述了近年来磁共振表观遗传调控的研究进展,并探讨了磁共振表观遗传治疗的概念。
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Histone and DNA modifications in mental retardation.

Mental retardation (MR), which affects 1-3% of the total population, refers to a pathological condition whereby the affected individuals suffer from cognitive impairment, which is diagnosed by a low intelligence quotient (IQ) (< 70). Over the years, human genetic studies identified a plethora of candidate genes causing MR, but mechanisms by which these candidates regulate cognitive function remain poorly understood. While the functions of MR genes range from cell signaling and gene expression to synaptic plasticity, there is growing evidence supporting a critical role for epigenetic and chromatin regulatory proteins in MR. Excitingly, recent molecular and genetic studies suggest the possibility of improving cognitive functions via modulation of epigenetic regulators, highlighting a potentially new avenue for therapeutic intervention. In this review, we discuss recent studies on epigenetic regulation in MR and explore the concept of epigenetic therapy for MR.

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