Kennedy Krieger Institute, Baltimore, MD, USA.
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
J Neurodev Disord. 2023 May 27;15(1):16. doi: 10.1186/s11689-023-09482-0.
Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes. These disorders almost universally have cognitive dysfunction and behavioral issues as core features. Here, we review what is known about the neurodevelopmental phenotypes of some key examples of these disorders divided into categories based on the underlying function of the affected protein. Understanding these Mendelian disorders of the epigenetic machinery can illuminate the role of epigenetic regulation in typical brain function and can lead to future therapies and better management for a host of neurodevelopmental and neuropsychological disorders.
表观遗传学是一种可以在不改变 DNA 序列的情况下改变基因表达的机制,这一概念在近一个世纪前就已提出。然而,表观遗传过程对于神经发育以及认知和行为等更高阶的神经功能的重要性,直到现在才被人们认识到。一组被称为表观遗传机制的孟德尔疾病,是由表观遗传机制蛋白功能改变引起的,这会导致许多基因的下游表达受到影响。这些疾病几乎都有认知功能障碍和行为问题等核心特征。在这里,我们根据受影响蛋白的功能将一些此类疾病的关键示例按类别进行综述,介绍了它们的神经发育表型。了解这些表观遗传机制的孟德尔疾病,可以阐明表观遗传调控在正常大脑功能中的作用,并为一系列神经发育和神经心理疾病的未来治疗和更好的管理提供依据。