Correcting the gene "spelling mistake" to block the "spider man" inheritance

August 30, 2018 Source: Nanfang Daily

Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];

The author was informed by the Third Affiliated Hospital of Guangzhou Medical University that the research team of Professor Liu Jianqiao and the team of Professor Huang Xingxu of Shanghai University of Science and Technology successfully repaired the genetic disease Marfan syndrome at the embryo level for the first time in the world using base editing technology. Pathogenic genes.

On August 14th, the research results were published in the international academic journal Molecular Therapy, which proved the efficiency and safety of base editing technology for the repair of disease-causing mutations in human embryos.

Gene "spelling mistake" tragedy repeatedly inherited

Marfan syndrome is an autosomal dominant genetic disease. The patient's limbs, fingers and toes are slender and uneven, so it is also called "spider man". At present, there is no specific drug for this disease, and surgery can only alleviate the symptoms and is expensive. Most of the patients died in their 50s.

According to Liu Jianqiao, each person's DNA is composed of four bases A, T, C, and G, just like "life letters," and genes are words made up of these letters. In patients with Marfan syndrome, the key gene of "FBN1" was changed, and the positions of A and G were changed, and "spelling errors" occurred.

Last year, Liu Jianqiao met a patient with a family of Ma Fan syndrome, Mr. Liu (a pseudonym). His father, brother and he were all sick. His brotherâ€™s child also inherited Ma Fan syndrome. After testing, if Mr. Liu has a child, at least 50% of the chances will inherit Ma Fan syndrome.

In order to prevent his children from inheriting the tragedy of the family, Liu Jianqiao helped Mr. Liu to screen healthy embryos through the third generation of IVF technology. But he is also thinking about what he can do for patients with Marfan syndrome.

Using gene editing technology, 16 of 18 embryos are normal

In March of last year, the Liu Jianqiao team published the world's first research on the application of gene editing technology to human normal embryos. They use CRISPR/Cas9 gene editing technology to block high incidence of thalassemia and faba bean disease in Guangdong. Can genetic modification of Ma Fan syndrome be repaired at the embryo level through gene editing technology?

After using the blood and sperm donated by Mr. Liu and obtaining their informed consent, the Liu Jianqiao team initiated a study to modify the pathogenic genes of Marfan syndrome on human embryos using gene editing technology.

In this study, they did not use the CRISPR/Cas9 technology, but instead adopted the base editor developed by Harvard University's David Liu Lab in 2016. By chemical reaction, the positions of A and G in the "FBN1" mutant gene are directly exchanged for "home" and the "spelling error" is corrected.

The results showed that of the 18 embryos, 16 showed a completely normal genotype! This means that this genetic disease has been blocked. More encouragingly, after sequencing, this gene editing technology operation did not â€œoff targetâ€, which proved its safety and reliability.

Single base mutation disease has a possible treatment plan

The research results have attracted the attention of many foreign media including Science magazine. The famous American technology magazine "Connected" evaluated that China has pushed base editing technology to human disease treatment more quickly. David Liu, the developer of the base editor, commented on the study, "This is a good example of how to use a base editor to correct a well-known point mutation." And Marfan syndrome and high incidence in Guangdongæ³»F piled up

"This study provides a possible treatment option for patients with such pathogenic mutations, demonstrating the gene therapy potential of gene editing technology," said Liu Jianqiao.

However, he also stressed that this technology is still a long way from clinical application due to ethical issues and restrictions of relevant laws and regulations, as well as verification of research reliability and safety. (Reporter Li Xiu-Ting correspondent Bai Hao)

Emergency Trolley

The brand [ Rocatti" was born in 2012. The company adheres to the business strategy of [Quality First, Credit

First", introduces international advanced technology and design concepts, and focuses on improving the medical care environment to provide safe, efficient and humanized. The product effectively relieves the work pressure of medical

staff and provides patients with a high-quality hospital experience. At the same time, the company maintains long-term close cooperation with universities and large medical groups, and enters the medical engineering industry such as

medical intelligent sharing and accompanying systems, medical logistics storage systems, and operating room purification systems.

Thanks to all the leaders, friends, users and colleagues who have been caring and supporting "jianghai medical" all the way.

We will continue to strive for continuous improvement and development, and strive for the best medical world!

Emergency Trolley,Stainless Stell Trolley,Mobile Emergency Trolley Carrying Drugs,Emergency Trolley With Drawers And Wheels

Shanghai Rocatti Biotechnology Co.,Ltd , https://www.shljdmedical.com