PDF(Pubmed)
Abstract：
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.
摘要：
罕见的神经系统疾病包括大量具有外周和/或中枢神经系统原发性损害的异质性综合征。这种罕见的疾病可能有重叠的表型，尽管他们独特的遗传病因。罕见神经系统疾病的一个独特方面是它们与改变的表观遗传机制的潜在共同关联。表观遗传机制包括控制基因表达和细胞表型而不改变相应DNA序列组成的调节过程。表观遗传因素包括三种类型的蛋白质，“读者”，作家,DNA和DNA结合蛋白的橡皮擦。因此，许多神经系统疾病的表观遗传损伤可能导致其病理和表现表型。这里,我们的目的是对某些罕见神经系统疾病的一般病因进行全面审查，包括Rett综合征,Prader-Willi综合征,Rubinstein-Taybi综合征,亨廷顿病,和Angelman综合征,关于它们相关的异常表观遗传机制。
