新的基因编辑技术可以“修复”遗传疾病
新的基因编辑技术可以“修复”遗传疾病
We’ve all heard a lot about genetic modification this year, thanks in large part to one Chinese scientist taking it upon himself to edited the genes of human babies. His work was universally decried by fellow scientists and he got himself into some serious trouble because of it.
今年我们都听说了很多关于基因改造的事情，这在很大程度上要归功于一位中国科学家，他亲自编辑了人类婴儿的基因。他的工作受到了同行科学家的普遍谴责，他因此陷入了一些严重的麻烦。
But genetic modification is an incredible tool that is showing promise in besting some really awful conditions and it might not be long before scientists can selectively “fix” inherited diseases before they become a problem. A new study published in Cell Research offers hope for making conditions like Huntington’s disease a thing of the past.
但是基因改造是一个不可思议的工具，它在克服一些非常可怕的疾病方面显示出了希望。或许不久之后，科学家们就能有选择地在遗传疾病成为问题之前“修复”它们。一项发表在《细胞研究》杂志上的新研究为亨廷顿氏病等疾病成为历史提供了希望。
Salk Institute researchers have invented a new method for editing genes that gives scientists greater flexibility in correcting genetic mutations that cause serious issues, including the mutations that lead to Huntington’s disease and the rapid-aging condition progeria.
索尔克研究所的研究人员发明了一种新的基因编辑方法，使科学家在纠正引起严重问题的基因突变方面具有更大的灵活性，包括导致亨廷顿氏病的突变和加速衰老的早衰症。
The new tool is called SATI and it’s based on the popular CRISPR-Cas9 gene-editing technique. The scientists developing SATI specifically designed it to work with a wide range of cell types that are often difficult to work with using existing gene-editing tools.
这个新工具叫做SATI，它基于流行的CRISPR-Cas9基因编辑技术。开发SATI的科学家特别设计了它，使其能与各种细胞类型协同工作，而这些细胞类型通常很难使用现有的基因编辑工具。
Rather than totally replacing troublesome genes — and risking any number of potential side effects that could result — scientists using SATI insert a known good copy of a misbehaving gene into a specific region of the DNA. The gene is then incorporated into the genome thanks to the DNA’s natural repair functions, effectively correcting the mutation without the possible risks of whole gene replacement.
使用SATI技术的科学家们并没有完全替换那些麻烦的基因，也没有冒着可能导致任何潜在副作用的风险，而是将一种已知的行为不端基因的良好拷贝插入到DNA的特定区域。然后，由于DNA的天然修复功能，该基因被整合到基因组中，有效地纠正了突变，而不存在整个基因替换的可能风险。
“We sought to create a versatile tool to target these non-coding regions of the DNA, which would not affect the function of the gene and enable the targeting of a broad range of mutations and cell types,” Mako Yamamoto, co-first author of the research, said in a statement.
该研究的第一作者之——山本真子在一份声明中说：“我们试图创造一种通用的工具来定位这些DNA的非编码区域，这些区域不会影响基因的功能，并且能够定位广泛的突变和细胞类型。”
“As a proof-of-concept, we focused on a mouse model of premature aging caused by a mutation that is difficult to repair using existing genome-editing tools.”
“作为概念验证，我们重点研究了一种老鼠模型，它是由一种突变引起的过早衰老，这种突变很难用现有的基因组编辑工具修复。”
In their testing, the SATI development team used the new technique to correct the gene responsible for progeria in mice. The results were dramatic, with the rodents showing clear signs that the age-affecting syndrome had been curbed, increasing the lifespan of the animals by 45%. If something similar could be done for humans with progeria, that would translate to over a decade of additional life, the researchers say.
在他们的测试中，SATI开发团队使用新技术纠正了小鼠早衰症的基因。结果是显著的，啮齿动物显示出明显的迹象，影响年龄的综合症已经得到控制，使动物的寿命延长了45%。研究人员说，如果对早衰症患者也能做类似的研究，那就意味着可以延长10年以上的寿命。
Going forward, the team plans to continue the development of the tool and increase its efficiency, boosting gains from the gene-editing procedure and potentially showing even more dramatic results.
展望未来，该团队计划继续开发该工具并提高其效率，提高基因编辑过程的收益，并可能显示出更显著的结果。
