Gene therapy 基因治疗A failed study shows a promising treatment for blindness一项失败的研究为失明提供了一种前景广阔的治疗方法A story of gene therapy and happy accidents这是一个关于基因治疗和意外之喜的故事Dec 12th 2020 |
IN THE TEXTBOOKS, science is simple. You come up with an idea, put it to the test, and then accept it or reject it depending on what your experiments reveal. In the real world, though, things are rarely that straightforward, as a paper just published in Science Translational Medicine shows. In it, a group of researchers led by Patrick Yu-Wai-Man, an ophthalmologist at Cambridge University, investigated a promising new genetic therapy for a hereditary form of blindness. Officially, their study was a failure, for their experiment did not show what the researchers hoped it would. But it was also a smashing success, for 29 of the 37 participants reported big improvements in their vision.在教科书里，科学是简单的。你有了一个想法，对它进行测试，然后根据你的实验结果接受或拒绝它。然而，正如刚刚发表在《科学转化医学》杂志上的一篇论文所显示的那样，在现实世界中，事情远非那么简单。在这篇论文中，由剑桥大学眼科医生Patrick Yu-Wai-Man领导的一组研究人员研究了一种有望治疗遗传性失明的新基因疗法。从官方上讲，他们的研究失败了，因为他们的实验没有显示出研究人员所希望的结果。但它也取得了巨大的成功，37名参与者中有29人报告他们的视力有了很大的改善。The disease in question is Leber hereditary optic neuropathy (LHON). A defective gene in a sufferer’s mitochondria—the tiny structures that provide a cell’s energy—causes retinal cells to die. That leads to sudden and rapid loss of sight, with many sufferers becoming legally blind within a year. It affects between one in 30,000 and one in 50,000 people. Men in their 20s and 30s are particularly susceptible. Treatment is limited and not particularly effective.
mitochondrion：线粒体（复数形式：mitochondria）
legally blind：法定失明
这里所谈及的疾病是遗传性视神经病变(LHON)。患者的线粒体(为细胞提供能量的微小结构)中的缺陷基因会导致视网膜细胞死亡，这会导致突然而迅速的失明，许多患者在一年内就会完全失明。它影响到三万分之一到五万分之一的人群，20多岁和30多岁的男性尤其容易受到影响。治疗方法有限，而且并不是特别有效。Since most cases are caused by a mutation in a single gene, LHON is a good candidate for gene therapy, a form of genetic engineering which aims to replace the defective gene with a working one. With that in mind, Dr Yu-Wai-Man and his colleagues loaded up a modified virus with a corrected copy of the gene and injected it into their patients’ eyes.由于大多数病例是由单个基因的突变引起的，所以LHON这种疾病非常适合基因治疗，基因治疗是基因工程的一种形式，旨在用一个有效的基因取代有缺陷的基因。基于这一点，Yu-Wai-Man博士和他的同事们将带有修正基因的改良病毒注射到病人的眼睛中。
