Boston University Alzheimer's Disease Center and Department of Neurology, Boston University School of Medicine, Boston, MA, 02118, USA.
Neurotherapeutics. 2013 Oct;10(4):664-76. doi: 10.1007/s13311-013-0206-5.
Huntington's disease (HD) is an incurable and fatal hereditary neurodegenerative disorder of mid-life onset characterized by chorea, emotional distress, and progressive cognitive decline. HD is caused by an expansion of CAG repeats coding for glutamine (Q) in exon 1 of the huntingtin gene. Recent studies suggest that epigenetic modifications may play a key role in HD pathogenesis. Alterations of the epigenetic "histone code" lead to chromatin remodeling and deregulation of neuronal gene transcription that are prominently linked to HD pathogenesis. Furthermore, specific noncoding RNAs and microRNAs are associated with neuronal damage in HD. In this review, we discuss how DNA methylation, post-translational modifications of histone, and noncoding RNA function are affected and involved in HD pathogenesis. In addition, we summarize the therapeutic effects of histone deacetylase inhibitors and DNA binding drugs on epigenetic modifications and neuropathological sequelae in HD. Our understanding of the role of these epigenetic mechanisms may lead to the identification of novel biological markers and new therapeutic targets to treat HD.
亨廷顿病(HD)是一种无法治愈和致命的中年起病的遗传性神经退行性疾病,其特征为舞蹈病、情绪困扰和进行性认知衰退。HD 是由亨廷顿基因 1 号外显子中编码谷氨酸(Q)的 CAG 重复扩展引起的。最近的研究表明,表观遗传修饰可能在 HD 的发病机制中起关键作用。表观遗传“组蛋白密码”的改变导致染色质重塑和神经元基因转录的失调,这与 HD 的发病机制密切相关。此外,特定的非编码 RNA 和 microRNAs 与 HD 中的神经元损伤有关。在这篇综述中,我们讨论了 DNA 甲基化、组蛋白的翻译后修饰以及非编码 RNA 功能如何受到影响,并参与了 HD 的发病机制。此外,我们总结了组蛋白去乙酰化酶抑制剂和 DNA 结合药物对 HD 中表观遗传修饰和神经病理学后果的治疗作用。我们对这些表观遗传机制作用的理解可能会导致发现新的生物标志物和治疗 HD 的新靶点。