Roberts Chris-Tiann, Arezoumand Khatereh Saei, Kadar Shahib Ashraf, Davie James R, Rastegar Mojgan
Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Front Cell Dev Biol. 2024 Jul 23;12:1413248. doi: 10.3389/fcell.2024.1413248. eCollection 2024.
Rare neurological diseases include a vast group of heterogenous syndromes with primary impairment(s) in the peripheral and/or central nervous systems. Such rare disorders may have overlapping phenotypes, despite their distinct genetic etiology. One unique aspect of rare neurological diseases is their potential common association with altered epigenetic mechanisms. Epigenetic mechanisms include regulatory processes that control gene expression and cellular phenotype without changing the composition of the corresponding DNA sequences. Epigenetic factors include three types of proteins, the "readers, writers, and erasers" of DNA and DNA-bound proteins. Thus, epigenetic impairments of many neurological diseases may contribute to their pathology and manifested phenotypes. Here, we aim to provide a comprehensive review on the general etiology of selected rare neurological diseases, that include Rett Syndrome, Prader-Willi Syndrome, Rubinstein-Taybi Syndrome, Huntington's disease, and Angelman syndrome, with respect to their associated aberrant epigenetic mechanisms.
罕见神经系统疾病包括一大类异质性综合征，其主要损伤发生在外周和/或中枢神经系统。尽管这些罕见疾病有着不同的遗传病因，但它们可能具有重叠的表型。罕见神经系统疾病的一个独特之处在于其与表观遗传机制改变可能存在的共同关联。表观遗传机制包括在不改变相应DNA序列组成的情况下控制基因表达和细胞表型的调节过程。表观遗传因子包括三种类型的蛋白质，即DNA和与DNA结合的蛋白质的“读取器、写入器和擦除器”。因此，许多神经系统疾病的表观遗传损伤可能导致其病理变化和表现出的表型。在此，我们旨在针对选定的罕见神经系统疾病，包括雷特综合征、普拉德-威利综合征、鲁宾斯坦-泰比综合征、亨廷顿病和天使综合征，就其相关的异常表观遗传机制，提供一篇全面综述。
