DNA Swap Could Cure Inherited DiseasesDNA移植使遗传性疾病的治愈成为可能
By Mark Handerson译/上海译锐翻译 医学生物领域B档译员 Michelle LIU

The prospect of a human baby with three biological parents has moved closer after scientists created monkeys using a technique that one day could stop children from inheriting severe genetic diseases.

科学家利用技术创造出猴子的事实使得人类婴儿拥有三名亲生父母的设想离现实更近了一步。这项技术可能会在将来的某一天，使孩子们不再患有严重的遗传性疾病。

The birth of four healthy macaque monkeys in the US offers the strongest evidence yet that DNA can be transplanted safely from one egg to another to correct genetic defects that damage health.

DNA可以安全的从一个卵子被移植到另一个卵子，以纠正那些会损害健康的基因缺陷。四个在美国出生的、健康的猕猴就是迄今为止对这一观点最强有力的证明。

The successful experiment in a close human relative suggests that it should be possible within a few years to use the method to help women who carry genetic disorders to avoid passing them to their children.

这项在人类近亲中所开展并大获成功的实验证明，在未来的几年内，利用这一方法来帮助患有遗传疾病的女性并使她们的后代不再患有遗传性疾病应该会成为可能。

It should allow scientists to replace faulty “cellular batteries” called mitochondria(注1), which affect about 1 in 6,500 births. While most mitochondria defects have mild effects, some can trigger severe brain, heart, muscle and liver conditions, as well as cancer, diabetes, blindness and deafness.

这些技术可以使科学家替换那些发生故障的“细胞动力站”或线粒体。每6500名出生的新生儿中，大约会有1名新生儿会受到有缺陷的线粒体的影响。尽管绝大多数的线粒体缺陷的影响微乎其微，但有些缺陷却能够引发严重的脑部、心脏、肌肉和肝脏病变，并会引发癌症、糖尿病、失明和失聪。

The technique is controversial, however, because the children it creates would inherit genetic material from three parents. The mother and father would contribute most of their child’s DNA but a small amount would come from a second woman donating healthy mitochondria.

然后，这项技术却具有争议性，原因是利用这项技术而诞生的孩子们除了会遗传父母的基因外，还可能会遗传第三个人的基因。这些孩子们的DNA绝大部分来自于自己的父母，不过有一小部分DNA可能会遗传另一位捐赠健康的线粒体的女性。

Such children would be the first produced by germline genetic engineering, in which genes introduced by artificial means would be passed to successive generations.

这些孩子们可能会成为由生殖系谱基因工程所创造的首批人。利用人工技术而引入到他们体内的基因可能会遗传给未来的几代人。

Shoukhrat Mitalipov, of the Oregon National Primate Research Centre, who led the research, said that this would be justified because it was the only viable approach.

这项研究的带头人，来自俄勒冈国家灵长类动物研究中心的Shoukhrat Mitalipov表示，因为这是唯一一个可行的方法，因此这种做法也许是合理的。

“The only way to treat these defects is to replace the genes,” he said. “This is gene transfer involving the germline, which is a concern, but we are pursuing it not for general use but for patients with mutations they will pass to the next generation. We believe this technology will prevent that.”

“治疗线粒体缺陷的唯一办法就是替换基因，”Shoukhrat Mitalipov说道，“基因的转移会涉及生殖系谱，这是人们所担心的。不过，这种方法不会广泛使用，而是只用在那些基因发生突变并且会遗传给下一代的患者身上。我们相信，这一技术可以预防这一情况的发生。”

Although more than 99 per cent of a cell’s DNA is carried in the nucleus, a small amount resides in the mitochondria — tiny energy-producing structures inherited from the mother — and it is mutations in this mitochondrial DNA that can cause disease.

尽管一个细胞中超过99%的DNA存在于细胞核中，但仍有少量存在于线粒体中。线粒体是一种遗传自母体的、能够产生能量的微小的结构体。而正是这种线粒体DNA的变异会引发疾病。

In the research, published in the journal Nature, the modified eggs containing chromosomes from one female monkey and mitochondria from another, were fertilised by injecting a sperm. The resulting embryos were transferred to the wombs of surrogate mothers.

在一项发表于《自然》杂志的研究中，通过注射精子的方式对经过转变的卵子（其中所含的染色体和线粒体分别来自两只不同的母猴）进行受精。然后将受精后产生的胚胎转移至代孕母猴的子宫内。

The first monkeys to be born were twins called Mito and Tracker, after a dye called MitoTracker used in the experiments. Two more monkeys were born after later experiments, named Spindler and Spindly after a genetic structure called the spindle along which chromosomes divide.

最先出生的是一对叫做Mito和Tracker的双胞胎小猴，它们的名字取自实验中所使用的一种叫做MitoTracker的染料。在随后的实验中，又有两名小猴子诞生并被分别命名为Spindler和Spindly。这两个名字取自一种被称作是纺锤体的基因结构。染色体会沿着这个叫做纺锤体的基因结构进行分裂。

Tests showed that none of the monkeys had any trace of mitochondrial DNA from the mother that provided their nuclear DNA, suggesting that the process was successful. “We consider it a big achievement,” Dr Mitalipov said. “Anything we study and achieve in non-human primates can be translated much more easily to humans.”

测试表明，没有任何一只猴子的线粒体DNA来自提供核DNA的母猴，这表明这一方法是非常成功的。“我们认为这是一项非常伟大的成就，”Mitalipov博士表示。“我们对非人类灵长类动物所进行的研究以及所取得的成就可以轻而易举的应用于人类。”

He said that the technology could be applied “pretty quickly” in humans, and that his team would apply to an internal ethics board and the US Food and Drug Adminstration for permission to try it with human eggs.

博士表示，这项技术可能很快就会用于人类。他的团队将向内部伦理委员会和美国食品药品管理局提出申请，以尝试将这项技术应用于人类卵子。

Clinical use will have to wait for the results of experiments with humans and follow-up studies on the health of the four monkeys. “It may take a few more years,” Dr Mitalipov said.

临床的应用必须要等到人体实验结果以及对四只猴子随后的健康研究结果出来后才能开展。“这可能还需要等上几年，”Mitalipov博士表示。

Similar research is being carried out by a team from Newcastle University using a slightly different technique.

来自纽卡斯尔大学的团队目前也在开展类似的研究，只是所使用的技术略有不同。

British scientists welcomed the Oregon study and urged the Government to change the law. The Human Fertilisation and Embryology Act (HFEA), passed last year, allows such experiments on embryos but made it illegal for altered embryos to be implanted into the womb. Ministers have the power to rescind this ban.

来自英国的科学家对俄勒冈研究中心的研究表示欢迎并敦促政府修改相关的法律。于去年通过的人类受精与胚胎管理法案（HFEA）允许对胚胎进行这类实验，但规定将改变的胚胎植入子宫是非法的。部长们有权撤销这一禁令。

Professor Robin Lovell-Badge, of the National Institute for Medical Research in London, said: “These are proof-of-principle experiments suggesting that transfer of the nuclear genetic material from one egg to another may be a valid way to avoid the devastating problems associated with the inheritance of abnormal mitochondria that are present in the eggs of some women.

位于伦敦的英国国家医学研究所的教授Robin Lovell-Badge表示：“这些原理验证阶段的实验表明，对于一些因遗传异常线粒体（存在于某些女性的卵子内）而引发的严重问题而言，将一个卵子内的核基因物质转移到另一个卵子内可能会成为一个合法的途径。”

“It would seem unreasonable to delay real trials where any embryos produced were transferred to the women who wanted to avoid having children affected with these diseases.”

“拖延真正实验的开展--即将所孕育的胚胎转移至希望后代不再患有此类遗传性疾病的女性子宫内，这样的做法似乎并不合理。”

He added: “I think it is quite reasonable to activate the regulation-making power now.”

“我认为现在完全可以启动相关职权部门并制定相应的法律了，”教授补充道。

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