microRNA在亨廷顿病中的研究进展

doi:10.12092/j.issn.1009-2501.2020.06.011

摘要/Abstract

摘要： 亨廷顿病(Huntington's disease, HD)是神经退行性疾病(neurodegenerative disorders)中一种单基因遗传病,由亨廷顿基因(the huntingtin gene, HTT)第一个外显子中的CAG三核苷酸序列重复扩增引起,尚无法治愈。HTT编码的蛋白产物被称为亨廷顿蛋白(Huntingtin protein, Htt)。突变亨廷顿蛋白(mutated huntingtin protein, mHtt)容易形成聚集体,具有毒性,导致一系列细胞学异常和神经元功能障碍。microRNA(miRNA)在基因转录后水平调控中起重要作用,其表达的改变与HD病理过程有关,成为治疗HD的潜在生物标志物。近年来,对一些特定miRNA在HD中调控机制及靶基因预测方面的研究可为HD提供潜在的治疗方法。本文就miRNA在HD中的相关研究进展进行综述。

关键词: microRNA, 亨廷顿病, 调控机制, 基因治疗

Abstract: Huntington's disease (HD) is a monogenic genetic disease of neurodegenerative disorders caused by repeated amplification of CAG trinucleotides in the first exon of the Huntingtin gene (HTT), and there are no treatments which could forestall or slow Huntington's disease. The protein product encoded by HTT is called huntingtin (Htt). The mutated huntingtin protein (mHtt) is easy to form aggregation which is toxic, leading to a series of cytological abnormalities and neuronal dysfunction. MicroRNA (miRNA) plays an important role in the post-transcriptional regulation of genes whose expression is related to the pathological process of Huntington's disease. miRNA is becoming the promising biomarker for the treatment of HD. Recent studies on the regulation of specific miRNAs in HD and the prediction of their target genes may provide a potential role for the treatment of HD. This review highlights the research progress on miRNAs in the occurrence of HD.

Key words: microRNA, Huntington's disease, regulation mechanism, gene therapy

中图分类号:

姜兵兵. microRNA在亨廷顿病中的研究进展[J]. 中国临床药理学与治疗学, 2020, 25(6): 677-685.

JIANG Bingbing. Research progress on microRNAs in Huntington's disease[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2020, 25(6): 677-685.

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