Nat Med：CRISPR基因编辑技术或有望治疗血液疾病

2016-08-17 佚名生物谷

图片来源：medicalxpress.com刊登于国际著名杂志Nature Medicine上的一项研究报告中，来自圣犹大儿童研究医院的研究人员通过研究利用CRISPR基因编辑技术就可以帮助治疗镰刀形细胞病以及β地中海贫血症，该研究为后期通过基因组编辑技术来开发治疗常见血液障碍的新型疗法提供了一定帮助。研究者Mitchell J. Weiss说道，我们所利用的基因编辑方法对于治疗遗传性胎儿血红

图片来源：medicalxpress.com

刊登于国际著名杂志Nature Medicine上的一项研究报告中，来自圣犹大儿童研究医院的研究人员通过研究利用CRISPR基因编辑技术就可以帮助治疗镰刀形细胞病以及β地中海贫血症，该研究为后期通过基因组编辑技术来开发治疗常见血液障碍的新型疗法提供了一定帮助。

研究者Mitchell J. Weiss说道，我们所利用的基因编辑方法对于治疗遗传性胎儿血红蛋白持续存在症具有一定益处，我们很早就知道，机体中胎儿血红蛋白水平持续升高，且携带遗传突变的个体往往对镰刀形细胞病及β地中海贫血症的症状有一定的耐受性，严重贫血的遗传形式在地球上很多区域都非常常见，这项研究中研究者就发现了一种方法，可以利用CRISPR基因编辑技术来对患者产生类似的有益效应。

胎儿血红蛋白和成体血红蛋白是红细胞中两种不同形式且非常必要的携带氧气的分子，血红蛋白由四种分子亚单位的不同组合所形成，而镰刀形细胞病和β地中海贫血症是由编码成年人表达的β亚单位的基因多个突变而引发，当个体出生后随着成体血红蛋白水平稳定而胎儿成人血红蛋白水平下降，疾病就开始慢慢变得明显了。这些突变能够影响红细胞的生存，并且抑制组织中氧气的供给，从而引发患者机体中不同器官功能的损伤。胎儿血红蛋白往往缺少β亚单位，而γ亚单位则对β亚单位进行替代，因此能够损伤β亚单位功能及产生的β地中海贫血症或镰刀形细胞病的相关突变并不会引发胎儿血红蛋白出现问题，而胎儿血红蛋白能够在成年人机体中有效运输氧气。

此前研究者们知道，抑制或逆转血红蛋白亚单位的γ-β开关就可以提高成年人机体中胎儿血红蛋白的水平，同时还会明显改善β地中海贫血症或镰刀形细胞病患者的虚弱症状，研究者Weiss补充道，这项研究中我们发现了一种基因组编辑介导疗法的潜在DNA靶点，并且为治疗β地中海贫血症及镰刀形细胞病提供了一种新方法。如今我们利用CRISPR基因编辑技术就可以靶向作用DNA，移除刺激γ-β开关的DNA片段，同时促进成体红细胞中胎儿血红蛋白水平的持续性增长。

当科学家们对来自镰刀形细胞病患者机体衍生的造血干细胞的DNA进行编辑时，他们就能够激活这些基因并且产生大量的红细胞，而这些红细胞就包含有对个体健康足够的胎儿血红蛋白。最近，科学家们利用多种基因编辑技术对造血干细胞进行操作来开发治疗β地中海贫血症和镰刀形细胞病的可能性疗法，其中就包括修复引发疾病的特殊基因突变，同时研究者还希望能够开发出新型策略来抑制γ-β开关的功能，当然所有的方法目前还没有在患者中进行试验。

本文研究就揭示了除现有许多创新性策略的另外一种方法，同时研究者还比较了该实验系统所产生的胎儿血红蛋白的水平。利用基因组编辑技术来恢复遗传性胎儿血红蛋白持续存在症或许是一种非常有吸引力的选择；研究者强调说，目前利用这种新型基因编辑方法进入临床试验还维持过早，后期我们希望能够继续深入研究来改善基因编辑过程，并且再进行其它实验来将潜在有害的脱靶突变的可能性降到最低，此外对不同方法进行对比来确定哪种方法最安全且最有效也是非常关键的，有待于我们后期进一步研究分析。

原始出处

Elizabeth A Traxler, Yu Yao, Yong-Dong Wang, Kaitly J Woodard, Ryo Kurita, Yukio Nakamura, Jim R Hughes, Ross C Hardison, Gerd A Blobel, Chunliang Li & Mitchell J Weiss.A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition.Nat Med.2016

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2017-01-22 guguangxiang

#CRISPR基因编辑#

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2016-10-18 仁心济世

#Nat#

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2016-08-20 136****0753赵

值得学习

113 0
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2016-08-19 yuandd

#CRISPR#

70 0
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2016-08-19 ms3994565386320060

#Med#

74 0
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2016-08-19 marlenexl

#基因编辑技术#

93 0
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2016-08-18 1dd8a7c5m95(暂无匿称)

学习了，赞一个！

119 0
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2016-08-18 1dd8a7c5m95(暂无匿称)

学习了，赞一个！

134 0
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2016-08-18 1dd8a7c5m95(暂无匿称)

学习了，赞一个！

108 0
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2016-08-18 1dd8a7c5m95(暂无匿称)

学习了，赞一个！

140 0

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