新的基因編輯技術(shù)可以“修復(fù)”遺傳疾病

新的基因編輯技術(shù)可以“修復(fù)”遺傳疾病

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.

今年我們都聽說了很多關(guān)于基因改造的事情，這在很大程度上要歸功于一位中國科學(xué)家，他親自編輯了人類嬰兒的基因。他的工作受到了同行科學(xué)家的普遍譴責(zé)，他因此陷入了一些嚴(yán)重的麻煩。

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.

但是基因改造是一個不可思議的工具，它在克服一些非?？膳碌募膊》矫骘@示出了希望?；蛟S不久之后，科學(xué)家們就能有選擇地在遺傳疾病成為問題之前“修復(fù)”它們。一項發(fā)表在《細胞研究》雜志上的新研究為亨廷頓氏病等疾病成為歷史提供了希望。

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.

索爾克研究所的研究人員發(fā)明了一種新的基因編輯方法，使科學(xué)家在糾正引起嚴(yán)重問題的基因突變方面具有更大的靈活性，包括導(dǎo)致亨廷頓氏病的突變和加速衰老的早衰癥。

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.

這個新工具叫做SATI，它基于流行的CRISPR-Cas9基因編輯技術(shù)。開發(fā)SATI的科學(xué)家特別設(shè)計了它，使其能與各種細胞類型協(xié)同工作，而這些細胞類型通常很難使用現(xiàn)有的基因編輯工具。

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技術(shù)的科學(xué)家們并沒有完全替換那些麻煩的基因，也沒有冒著可能導(dǎo)致任何潛在副作用的風(fēng)險，而是將一種已知的行為不端基因的良好拷貝插入到DNA的特定區(qū)域。然后，由于DNA的天然修復(fù)功能，該基因被整合到基因組中，有效地糾正了突變，而不存在整個基因替換的可能風(fēng)險。

“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.

該研究的第一作者之——山本真子在一份聲明中說：“我們試圖創(chuàng)造一種通用的工具來定位這些DNA的非編碼區(qū)域，這些區(qū)域不會影響基因的功能，并且能夠定位廣泛的突變和細胞類型。”

“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.”

“作為概念驗證，我們重點研究了一種老鼠模型，它是由一種突變引起的過早衰老，這種突變很難用現(xiàn)有的基因組編輯工具修復(fù)。”

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.

在他們的測試中，SATI開發(fā)團隊使用新技術(shù)糾正了小鼠早衰癥的基因。結(jié)果是顯著的，嚙齒動物顯示出明顯的跡象，影響年齡的綜合癥已經(jīng)得到控制，使動物的壽命延長了45%。研究人員說，如果對早衰癥患者也能做類似的研究，那就意味著可以延長10年以上的壽命。

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.

展望未來，該團隊計劃繼續(xù)開發(fā)該工具并提高其效率，提高基因編輯過程的收益，并可能顯示出更顯著的結(jié)果。