NMANews2014.1.16---牛津大学基因治疗恢复脉络膜失明

NMANews2014.1.16---牛津大学基因治疗恢复脉络膜失明
發佈時間：2014年02月16日
A novel gene therapy developed by University of Oxford researchers may restore vision to patients with a previously incurable form of blindness. The results of the pioneering study where six people were successfully treated for the disease were published on Thursday (January 16).
Choroideremia is a rare, male-exclusive genetic disease in which photoreceptors in the retina and the underlying vascular layer, known as the choroid, degenerate. The process begins in childhood and develops into blindness in old age.
The disease is caused by a defective CHM gene. The faulty gene fails to produce REP-1, a protein essential for sustaining photoreceptors in the retina. Without REP-1, cells in the retina begin to die, causing blindness.
In this novel therapy, a functional copy of the gene is inserted into a virus vector, which is then delivered to degenerating photoreceptors in the retina. While this technique cannot regenerate cells that have already been destroyed, it can restore normal functioning to defective cells.
"We're trying to rescue the cells that are there already, to return the function of those cells to normal," Robert MacLaren, who heads this study, said in a New Scientist report. "What we can't do is bring back the cells that have already gone. That's one of the distinguishing features between stem cell therapy, which is to regenerate lost tissue, and gene therapy, which at the moment is there to sustain cells that would otherwise die."
Six of the nine patients enrolled in the therapy reported improved vision six months following treatment.
由牛津大学的研究人员开发出一种新的基因疗法可以恢复视力患者失明以前无法治愈的形式。开创性研究，在成功治疗该病六人的研究结果发表在周四（ 1月16日） 。
脉络膜是指在光感受器的视网膜和底层的血管层，被称为脉络膜，堕落少见，男性独有的遗传性疾病。该过程始于童年，并发展成失明的晚年。
本病是由有缺陷的CHM基因引起的。缺陷基因不能产生REP - 1 ，在视网膜光感受器维持必不可少的蛋白质。如果没有REP - 1 ，细胞在视网膜开始死亡，导致失明。
在这种新颖的治疗，该基因的功能性拷贝被插入到病毒载体中，然后将其传递到在视网膜光感受器退化。虽然这种技术不能再生了已经被破坏的细胞，它可以恢复正常功能有缺陷的细胞。
“我们正在努力拯救那些已经存在，这些细胞的功能恢复到正常的细胞， ”罗伯特·麦克拉伦，谁负责这项研究中，在新的科学家报告说。 “我们不能做的是带回那些已经消失了的细胞，这就是干细胞疗法，这是再生失去的组织，和基因治疗，这在目前是有维持细胞之间的显着特点之一是将否则死。“
六九例患者在治疗的报道改善视力六个月后治疗。