线粒体病的基因治疗  

The studies on the gene therapy of mitochondrial diseases

作　　者：曹佐武[1] 

机构地区：[1]暨南大学生命科学技术学院生殖免疫研究所,广东广州510632

出　　处：《暨南大学学报（自然科学与医学版）》2011年第2期122-125,共4页Journal of Jinan University(Natural Science & Medicine Edition)

基　　金：国家自然科学基金重点项目(21307017)

摘　　要：线粒体基因突变导致的线粒体病仍是不治之症,目前只有针对症状的支持性疗法。根治线粒体病只能寄希望于基因治疗。基因治疗的主要目标是修补特定基因突变导致的功能缺陷,或促使异质性的转变,以降低突变型与野生型基因组的比例。所探讨的途径主要包括:①在肽核酸和锌指肽的引导下选择性抑制突变基因组的复制;②利用特定的限制性内切酶去除突变的线粒体基因组;③把特定的tRNAs输入线粒体;④把异位表达的线粒体多肽输入线粒体。但临床上基因治疗线粒体病还需更多的研究。The mitochondrial diseases caused by mutation of mtDNA are incurable so far.The current treatments to these diseases are only symptomatic.Gene therapy will be the promising treatment.The gene therapy aims mainly at either compensating the biochemical defect caused by mtDNA mutation,or reducing the proportion of the mutated genomes to the wild type genomes.Several approaches to this goal have been studied： ①Inhibiting replication of mutant genomes with the mitochondrially targeted peptide nucleic acids（PNAs） or sequence-specific zinc finger-binding peptide destined for mitochondria;②removing pathogenic mtDNA genomes by certain restriction endonuclease.③Importing speeific RNAs into mitochondria;④Allotopic expression of mitochondrial polypeptides and importing back into mitochondria.Considerable progress has been made in these studies,but further investigation has to be done before clinical trials.

关 键 词：线粒体病 异质性 基因治疗 异位表达 

分 类 号：R394.8[医药卫生—医学遗传学]