摘要
近年研究发现基因转录异常可导致亨廷顿病（Huntington’s disease，HD）等多聚谷氨酰胺（polyglutamine，PolyQ）病中的神经元功能异常。组蛋白去乙酰化酶（histone deaeetylases，HDACs）作为一种转录抑制因子，可与辅阻遏物复合体相互作用导致染色质重塑，最终抑制目的基因的转录。PolyQ蛋白与基因转录调控因子异常的相互作用可能是PolyQ病转录失调的原因之一。作者就PolyQ病转录失调的可能发生机制，尤其是组蛋白乙酰转移酶（histone acetyltransferases，HATs）和HDACs在其中所起的作用，以及组蛋白去乙酰化酶抑制剂（histone deaeetylases inhibitors，HDACIs）的治疗潜能等方面予以综述。
During the past few years, gene expression studies have shown that the perturbation of transcription frequently results in neuronal dysfunction in polyglutamine （PolyQ） diseases such as Huntington＇s disease （HD）. Histone deacetylases （HDACs） act as repressors of transcription through interaction with co-repressor complexes, leading to chromatin remodelling. Aberrant interaction between PolyQ proteins and regulators of transcription could be one mechanism by which transcriptional dysregulation occurs. Here, the authors discuss the possible mechanism of transcriptional dysfunction in PolyQ disease, including the effect of histone acetyltransferases （HATs） and HDACs on pathogenesis, and the potential therapeutic pathways through which histone deacetylase inhibitors （HDACIs） might act to correct the aberrant transcription observed in HD and other PolyQ diseases.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2010年第1期52-55,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30971585,30871354,30710303061,30400262）
湖南省自然科学基金重点项目（08JJ3048）
