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来自mtDNA疾病患者的多能细胞中的代谢救援

Hong Ma¹, Clifford D L Folmes², Jun Wu³

¹1] Center for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 S.W. Bond Avenue, Portland, Oregon 97239, USA [2] Division of Reproductive &Developmental Sciences, Oregon National Primate Research Center, Oregon Health &Science University, 505 N.W. 185th Avenue, Beaverton, Oregon 97006, USA.

|July 16, 2015

概括

研究人员从患有线粒体DNA (mtDNA) 疾病的患者中产生了基因纠正的多能干细胞 (PSC). 这些修正后的PSC显示正常的代谢功能,为衰弱的mtDNA疾病提供了新的治疗策略.

科学领域:

细胞生物学
遗传学
生物化学

背景情况:

由于氧化酸化受损,线粒体DNA (mtDNA) 突变会导致严重的疾病.
mtDNA疾病的临床症状取决于突变类型和异质体水平.
目前对mtDNA疾病的治疗选择有限.

研究的目的:

从患有线粒体DNA (mtDNA) 疾病的患者中产生基因纠正的多能干细胞 (PSC).
评估经过纠正的PSC的功能和转录形状.
建立补充性策略,以获得无疾病的PSC.

主要方法:

从异质细胞mtDNA突变 (3243A>G,8993T>G,13513G>A) 的患者中产生诱导多能干细胞 (iPS) 细胞系.
在增殖纤维细胞中自发分离的异质体mtDNA以创建同质细胞系.
实体细胞核转移 (SCNT) 用野生型mtDNA替换突变mtDNA.

主要成果:

产生的同源性iPS细胞系仅具有野生类型或突变mtDNA.
使用SCNT与野生型mtDNA创建纠正的Leigh综合征PSCs (Leigh-NT1).
经过校正后的PSC表现出正常的代谢功能,包括氧气消耗和ATP产生.
莱伊-NT1细胞的转录形状与野生类型的PSC相似,表明正常的核线粒体相互作用.

结论:

包括自发分离和SCNT在内的重编程方法对于专门采用野生类型mtDNA的PSC有效.
经过基因纠正的PSC显示恢复了新陈代谢功能,为治疗mtDNA疾病提供了潜力.
这些策略为产生患者特异性,无病干细胞提供了补充途径.

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