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DNA Swap Could Cure Inherited DiseasesDNA移植使遺傳性疾病的治愈成為可能
By Mark Handerson譯/上海譯銳翻譯 醫學生物領域B檔譯員 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.

科學家利用技術創造出猴子的事實使得人類嬰兒擁有三名親生父母的設想離現實更近了一步。這項技術可能會在將來的某一天，使孩子們不再患有嚴重的遺傳性疾病。

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可以安全的從一個卵子被移植到另一個卵子，以糾正那些會損害健康的基因缺陷。四個在美國出生的、健康的獼猴就是迄今為止對這一觀點最強有力的證明。

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.

這項在人類近親中所開展并大獲成功的實驗證明，在未來的幾年內，利用這一方法來幫助患有遺傳疾病的女性并使她們的后代不再患有遺傳性疾病應該會成為可能。

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.

這些技術可以使科學家替換那些發生故障的“細胞動力站”或線粒體。每6500名出生的新生兒中，大約會有1名新生兒會受到有缺陷的線粒體的影響。盡管絕大多數的線粒體缺陷的影響微乎其微，但有些缺陷卻能夠引發嚴重的腦部、心臟、肌肉和肝臟病變，并會引發癌癥、糖尿病、失明和失聰。

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，這項技術卻具有爭議性，原因是利用這項技術而誕生的孩子們除了會遺傳父母的基因外，還可能會遺傳第三個人的基因。這些孩子們的DNA絕大部分來自于自己的父母，不過有一小部分DNA可能會遺傳另一位捐贈健康的線粒體的女性。

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

這些孩子們可能會成為由生殖系譜基因工程所創造的首批人。利用人工技術而引入到他們體內的基因可能會遺傳給未來的幾代人。

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.

這項研究的帶頭人，來自俄勒岡國家靈長類動物研究中心的Shoukhrat Mitalipov表示，因為這是唯一一個可行的方法，因此這種做法也許是合理的。

“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.”

“治療線粒體缺陷的唯一辦法就是替換基因，”Shoukhrat Mitalipov說道，“基因的轉移會涉及生殖系譜，這是人們所擔心的。不過，這種方法不會廣泛使用，而是只用在那些基因發生突變并且會遺傳給下一代的患者身上。我們相信，這一技術可以預防這一情況的發生。”

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.

盡管一個細胞中超過99%的DNA存在于細胞核中，但仍有少量存在于線粒體中。線粒體是一種遺傳自母體的、能夠產生能量的微小的結構體。而正是這種線粒體DNA的變異會引發疾病。

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.

在一項發表于《自然》雜志的研究中，通過注射精子的方式對經過轉變的卵子（其中所含的染色體和線粒體分別來自兩只不同的母猴）進行受精。然后將受精后產生的胚胎轉移至代孕母猴的子宮內。

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.

最先出生的是一對叫做Mito和Tracker的雙胞胎小猴，它們的名字取自實驗中所使用的一種叫做MitoTracker的染料。在隨后的實驗中，又有兩名小猴子誕生并被分別命名為Spindler和Spindly。這兩個名字取自一種被稱作是紡錘體的基因結構。染色體會沿著這個叫做紡錘體的基因結構進行分裂。

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.”

測試表明，沒有任何一只猴子的線粒體DNA來自提供核DNA的母猴，這表明這一方法是非常成功的。“我們認為這是一項非常偉大的成就，”Mitalipov博士表示。“我們對非人類靈長類動物所進行的研究以及所取得的成就可以輕而易舉的應用于人類。”

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，這項技術可能很快就會用于人類。他的團隊將向內部倫理委員會和美國食品藥品管理局提出申請，以嘗試將這項技術應用于人類卵子。

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.

臨床的應用必須要等到人體實驗結果以及對四只猴子隨后的健康研究結果出來后才能開展。“這可能還需要等上幾年，”Mitalipov博士表示。

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

來自紐卡斯爾大學的團隊目前也在開展類似的研究，只是所使用的技術略有不同。

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.

來自英國的科學家對俄勒岡研究中心的研究表示歡迎并敦促政府修改相關的法律。于去年通過的人類受精與胚胎管理法案（HFEA）允許對胚胎進行這類實驗，但規定將改變的胚胎植入子宮是非法的。部長們有權撤銷這一禁令。

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.

位于倫敦的英國國家醫學研究所的教授Robin Lovell-Badge表示：“這些原理驗證階段的實驗表明，對于一些因遺傳異常線粒體（存在于某些女性的卵子內）而引發的嚴重問題而言，將一個卵子內的核基因物質轉移到另一個卵子內可能會成為一個合法的途徑。”

“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.”

“拖延真正實驗的開展--即將所孕育的胚胎轉移至希望后代不再患有此類遺傳性疾病的女性子宮內，這樣的做法似乎并不合理。”

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

“我認為現在完全可以啟動相關職權部門并制定相應的法律了，”教授補充道。

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