Animal models of human mitochondrial DNA mutations.
Animal models of human mitochondrial DNA mutations.
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DOI：
10.1016/j.bbagen.2011.08.005
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发表时间：
2012-05
影响因子：
3
通讯作者：
Pinkert, Carl A.
中科院分区：
文献类型：
--
作者：
Dunn, David A.;Cannon, Matthew V.;Irwin, Michael H.;Pinkert, Carl A.
关键词：
线粒体DNA(MtDNA)突变在人类患者中引起多种病理状态。开发携带线粒体DNA突变的动物模型对于阐明疾病的途径以及作为治疗干预措施的临床前评估的模型至关重要。该综述包括通过线粒体DNA突变的动物模型获得的知识以及用于产生突变的策略。包括线粒体DNA自发突变、体细胞核移植(SCNT)、线粒体基因核转位和线粒体蛋白靶向(异位表达)、线粒体DNA聚合酶γ突变、外源线粒体直接显微注射、以及含有外源线粒体的细胞质杂交胚胎干细胞(线粒体细胞)。已经开发和利用了广泛的策略来尝试在动物模型中模拟人类线粒体DNA突变。在研究中使用这些动物已经阐明了线粒体疾病的发病机制，但设计特定mtDNA序列的方法仍在开发中。含有线粒体DNA突变的研究动物对研究线粒体疾病的机制很重要，对临床治疗的发展也很有用。
Mutations in mitochondrial DNA (mtDNA) cause a variety of pathologic states in human patients. Development of animal models harboring mtDNA mutations is crucial to elucidating pathways of disease and as models for preclinical assessment of therapeutic interventions. This review covers the knowledge gained through animal models of mtDNA mutations and the strategies used to produce them. Animals derived from spontaneous mtDNA mutations, somatic cell nuclear transfer (SCNT), nuclear translocation of mitochondrial genes followed by mitochondrial protein targeting (allotopic expression), mutations in mitochondrial DNA polymerase gamma, direct microinjection of exogenous mitochondria, and cytoplasmic hybrid (cybrid) embryonic stem cells (ES cells) containing exogenous mitochondria (transmitochondrial cells) are considered. A wide range of strategies have been developed and utilized in attempts to mimic human mtDNA mutation in animal models. Use of these animals in research studies has shed light on mechanisms of pathogenesis in mitochondrial disorders, yet methods for engineering specific mtDNA sequences are still in development. Research animals containing mtDNA mutations are important for studies of the mechanisms of mitochondrial disease and are useful for development of clinical therapies.
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影响因子：
56.9
作者：
Fan, Weiwei;Waymire, Katrina G.;Wallace, Douglas C.
通讯作者：
Wallace, Douglas C.
影响因子：
4.4
作者：
Cannon, M. V.;Dunn, D. A.;Pinkert, C. A.
通讯作者：
Pinkert, C. A.
影响因子：
4
作者：
DiMauro, Salvatore;Mancuso, Michelangelo
通讯作者：
Mancuso, Michelangelo
影响因子：
4.5
作者：
Baranowska, Izabella;Jaderlund, Karin Hultin;Andersson, Leif
通讯作者：
Andersson, Leif
DOI：
10.1111/j.1432-1033.1991.tb16110.x
发表时间：
1991-07-01
期刊：
EUROPEAN JOURNAL OF BIOCHEMISTRY
影响因子：
--
作者：
GRASSO, DG;NERO, D;NAGLEY, P
通讯作者：
NAGLEY, P