生物谷報道：佛羅里達大學的研究者運用基因療法,，恢復了一種患有遺傳性失明的小鼠的視力,，這可能給許多失明患者帶來復明的希望。
在這篇發(fā)表在5月21日期《Nature Medicine》雜志上的研究性文章中,，科學家詳細描述了如何使用無毒病毒將正確的基因傳遞給因遺傳缺陷而失明的小鼠,。
此項發(fā)現(xiàn)表明可以通過靶向、拯救視錐細胞（cone cell）這一視覺清晰度、色覺最為重要的細胞,，來醫(yī)治患者的眼疾,。
“ 視錐細胞決定著一些人是否失明，” William W. Hauswirth介紹說,，“如果我們能將有用的基因很有針對性地傳遞給視錐細胞,，那就不僅僅是有望治療遺傳性失明，可以說對所有的失明患者都有療效的,。例如,，年齡相關(guān)性黃斑變性（age-related macular degeneration，AMD）和糖尿視網(wǎng)膜病變（diabetic retinopathy）,，也有可能通過這種思路進行治療,。”
科學家選用的小鼠模型是患有色盲（achromatopsia）的一種遺傳性失明的小鼠，這種疾病通過讓視網(wǎng)膜的視錐細胞光受體失去作用,，影響著三萬分之一的美國人,。這種疾病一旦發(fā)作，幾乎讓人徹底喪失色覺,，也導致嚴重的中央視覺損傷,。
原始出處：
Nature Medicine (21 May 2007) Brief Communications
Brief Communication
Published online: 21 May 2007; | doi:10.1038/nm1596
Restoration of cone vision in a mouse model of achromatopsia
John J Alexander1, Yumiko Umino2, Drew Everhart2, Bo Chang3, Seok H Min4, Qiuhong Li4, Adrian M Timmers4, 5, Norman L Hawes3, Ji-jing Pang4, Robert B Barlow2 & William W Hauswirth1, 4
1 Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
2 Center for Vision Research, Department of Ophthalmology, State University of New York Upstate Medical University, Syracuse, New York 13210, USA.
3 The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
4 Department of Ophthalmology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
5 Present address: Alcon Research Ltd., Fort Worth, Texas 76134, USA.
Correspondence should be addressed to William W Hauswirth [email protected]
Abstract
Loss of cone function in the central retina is a pivotal event in the development of severe vision impairment for many prevalent blinding diseases. Complete achromatopsia is a genetic defect resulting in cone vision loss in 1 in 30,000 individuals. Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 cpfl3 mouse model of achromatopsia.
