Denovan-Wright E M, Davidson B L
Department of Pharmacology, Dalhousie University Halifax, NS, Canada.
Gene Ther. 2006 Mar;13(6):525-31. doi: 10.1038/sj.gt.3302664.
Genetic diseases that are accompanied by central nervous system involvement are often fatal. Among these are the autosomal dominant neurogenetic diseases caused by nucleotide repeat expansion. For example, Huntington's disease (HD) and spinal cerebellar ataxia are caused by expansion of a tract of CAGs encoding glutamine. In HD and the other CAG-repeat expansion diseases, the expansion is in the coding region. Myotonic dystrophy is caused by repeat expansions of CUG or CCTG in noncoding regions, and the mutant RNA is disease causing. Treatments for these disorders are limited to symptomatic intervention. RNA interference (RNAi), which is a method for inhibiting target gene expression, provides a unique tool for therapy by attacking the fundamental problem directly. In this review, we describe briefly several representative disorders and their respective molecular targets, and methods to accomplish therapeutic RNAi. Finally, we summarize studies performed to date.
伴有中枢神经系统受累的遗传疾病往往是致命的。其中包括由核苷酸重复扩增引起的常染色体显性神经遗传疾病。例如,亨廷顿舞蹈症(HD)和脊髓小脑共济失调是由编码谷氨酰胺的一串CAG重复序列扩增所引起的。在HD及其他CAG重复扩增疾病中,扩增发生在编码区。强直性肌营养不良是由非编码区CUG或CCTG的重复扩增所引起的,且突变RNA具有致病作用。这些疾病的治疗仅限于对症干预。RNA干扰(RNAi)作为一种抑制靶基因表达的方法,通过直接攻克根本问题为治疗提供了独特的工具。在本综述中,我们简要描述了几种代表性疾病及其各自的分子靶点,以及实现治疗性RNAi的方法。最后,我们总结了迄今为止所开展的研究。