基因疗法治愈两例全色盲犬科动物
文章来源:未知 文章作者:meng 发布时间:2010-04-22 01:35 字体: [ ]  进入论坛
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Veterinary(兽医的) ophthalmology(眼科学) researchers from the University of Pennsylvania have used gene1 therapy to restore retinal cone2(视锥) function and day vision in two canine3(犬科的) models of congenital(先天的,天生的) achromatopsia(全色盲) , also called rod(棒,枝条) monochromacy or total color blindness. Achromatopsia is a rare autosomal(正染色体的) recessive4(隐性的,逆行的) disorder5 with an estimated prevalence(流行,普遍) in human beings of about 1 in 30,000 to 50,000. It primarily affects the function of the cone photoreceptors in the retina(视网膜) and serves as a representative model for other more common inherited retinal disorders6 affecting cones7. Cone function is essential for color vision, central visual acuity8(视敏度) and most daily visual activities, which underlines the importance of the newly developed treatment.

The treatment cured younger canines9(犬齿,尖牙) regardless of the mutation10 that caused their achromatopsia. It was effective for the 33 months of the study and most likely is permanent; however, researchers also observed a reproducible reduction in the cone therapy success rate in dogs treated at 54 weeks of age or older.

The successful therapy in dogs was documented by the restoration of the cone function using electroretinography(视网膜电图) and by objective measure of day vision behavior. The behavioral results suggest that inner retinal cells and central visual pathways were able to usefully process the input11 from the recovered cones.

The results represent the second successful cone-directed gene replacement12 therapy in achromatopsia animal models and the first outside of mouse models. The gene therapy targets mutations of the CNGB3 gene, the most common cause of achromatopsia in humans. Achromatopsia-affected dogs represent the only natural large animal model of CNGB3-achromatopsia.

The results hold promise for future clinical trials of cone-directed gene therapy in achromatopsia and other cone-specific disorders.

"The successful restoration of visual function with recombinant adeno-associated virus-mediated gene replacement therapy has ushered13 in(领进,引进) a new era of retinal therapeutics," said András M. Komáromy, assistant professor of ophthalmology(眼科学) at the Penn School of Veterinary Medicine and lead author of the study.

Many vision-impairing disorders in humans result from genetic14 defects, and, to date, mutations have been identified in ~150 genes15 out of ~200 mapped retinal disease loci. This wealth of genetic information has provided fundamental understanding of the multiple and specialized16 roles played by photoreceptors and the retinal pigment17(视网膜色素) epithelium(上皮,上皮细胞) in the visual process and how mutations in these genes result in disease. Together with the development of gene-transfer technologies, it is now possible to realistically consider the use of gene therapy to treat these previously18 untreatable disorders.



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1 gene WgKxx     
n.遗传因子,基因
参考例句:
  • A single gene may have many effects.单一基因可能具有很多种效应。
  • The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。
2 cone lYJyi     
n.圆锥体,圆锥形东西,球果
参考例句:
  • Saw-dust piled up in a great cone.锯屑堆积如山。
  • The police have sectioned off part of the road with traffic cone.警察用锥形路标把部分路面分隔开来。
3 canine Lceyb     
adj.犬的,犬科的
参考例句:
  • The fox is a canine animal.狐狸是犬科动物。
  • Herbivorous animals have very small canine teeth,or none.食草动物的犬牙很小或者没有。
4 recessive GANzD     
adj.退行的,逆行的,后退的,隐性的
参考例句:
  • Blue eyes are recessive and brown eyes are dominant.蓝眼睛是隐性的;而褐色眼睛是显性的。
  • Sickle-cell anaemia is passed on through a recessive gene.镰状细胞贫血通过隐性基因遗传给后代。
5 disorder Et1x4     
n.紊乱,混乱;骚动,骚乱;疾病,失调
参考例句:
  • When returning back,he discovered the room to be in disorder.回家后,他发现屋子里乱七八糟。
  • It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。
6 disorders 6e49dcafe3638183c823d3aa5b12b010     
n.混乱( disorder的名词复数 );凌乱;骚乱;(身心、机能)失调
参考例句:
  • Reports of anorexia and other eating disorders are on the increase. 据报告,厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
  • The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》
7 cones 1928ec03844308f65ae62221b11e81e3     
n.(人眼)圆锥细胞;圆锥体( cone的名词复数 );球果;圆锥形东西;(盛冰淇淋的)锥形蛋卷筒
参考例句:
  • In the pines squirrels commonly chew off and drop entire cones. 松树上的松鼠通常咬掉和弄落整个球果。 来自辞典例句
  • Many children would rather eat ice cream from cones than from dishes. 许多小孩喜欢吃蛋卷冰淇淋胜过盘装冰淇淋。 来自辞典例句
8 acuity GJhyG     
n.敏锐,(疾病的)剧烈
参考例句:
  • We work on improving visual acuity.我们致力于提高视觉的敏锐度。
  • The nurse may also measure visual acuity.护士还可以检查视敏度。
9 canines a19dc7100e8d5dd734b7ad167656d5d1     
n.犬齿( canine的名词复数 );犬牙;犬科动物
参考例句:
  • For example, the teeth are more primitive. There are large canines and unusually shaped incisors. 譬如,牙齿更为原始,有大的犬齿和非常合适的门齿。 来自辞典例句
  • Well-to-canines can attend doggy daycare centers while their owners work. 富人家的狗在主人上班的时候可以去狗狗托管中心。 来自互联网
10 mutation t1PyM     
n.变化,变异,转变
参考例句:
  • People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
  • So far the discussion has centered entirely around mutation in the strict sense.到目前为止,严格来讲,讨论完全集中于围绕突变问题上。
11 input X6lxm     
n.输入(物);投入;vt.把(数据等)输入计算机
参考例句:
  • I will forever be grateful for his considerable input.我将永远感激他的大量投入。
  • All this information had to be input onto the computer.所有这些信息都必须输入计算机。
12 replacement UVxxM     
n.取代,替换,交换;替代品,代用品
参考例句:
  • We are hard put to find a replacement for our assistant.我们很难找到一个人来代替我们的助手。
  • They put all the students through the replacement examination.他们让所有的学生参加分班考试。
13 ushered d337b3442ea0cc4312a5950ae8911282     
v.引,领,陪同( usher的过去式和过去分词 )
参考例句:
  • The secretary ushered me into his office. 秘书把我领进他的办公室。
  • A round of parties ushered in the New Year. 一系列的晚会迎来了新年。 来自《简明英汉词典》
14 genetic PgIxp     
adj.遗传的,遗传学的
参考例句:
  • It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
  • Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。
15 genes 01914f8eac35d7e14afa065217edd8c0     
n.基因( gene的名词复数 )
参考例句:
  • You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因,所以能够活得很长。 来自《简明英汉词典》
  • Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪
16 specialized Chuzwe     
adj.专门的,专业化的
参考例句:
  • There are many specialized agencies in the United Nations.联合国有许多专门机构。
  • These tools are very specialized.这些是专用工具。
17 pigment gi0yg     
n.天然色素,干粉颜料
参考例句:
  • The Romans used natural pigments on their fabrics and walls.古罗马人在织物和墙壁上使用天然颜料。
  • Who thought he might know what the skin pigment phenomenon meant.他自认为可能知道皮肤色素出现这种现象到底是怎么回事。
18 previously bkzzzC     
adv.以前,先前(地)
参考例句:
  • The bicycle tyre blew out at a previously damaged point.自行车胎在以前损坏过的地方又爆开了。
  • Let me digress for a moment and explain what had happened previously.让我岔开一会儿,解释原先发生了什么。
TAG标签: color vision gene
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