色盲症小鼠模型中视锥细胞视觉的恢复
Restoration of cone vision in a mouse model of achromatopsia.
作者信息
Alexander John J, Umino Yumiko, Everhart Drew, Chang Bo, Min Seok H, Li Qiuhong, Timmers Adrian M, Hawes Norman L, Pang Ji-Jing, Barlow Robert B, Hauswirth William W
机构信息
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
出版信息
Nat Med. 2007 Jun;13(6):685-7. doi: 10.1038/nm1596. Epub 2007 May 21.
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.
摘要
在许多常见致盲疾病导致严重视力损害的发展过程中，中央视网膜视锥细胞功能丧失是一个关键事件。完全性色盲是一种基因缺陷，每30000人中就有1人因之导致视锥细胞视力丧失。利用腺相关病毒（AAV）基因疗法，我们发现在色盲的Gnat2（cpfl3）小鼠模型中，有可能靶向视锥细胞并挽救视锥细胞介导的视网膜电图反应和视敏度。
相似文献
1
Restoration of cone vision in a mouse model of achromatopsia.色盲症小鼠模型中视锥细胞视觉的恢复
Nat Med. 2007 Jun;13(6):685-7. doi: 10.1038/nm1596. Epub 2007 May 21.
2
Prospects for retinal cone-targeted gene therapy.视网膜锥体细胞靶向基因治疗的前景。
Drug News Perspect. 2008 Jun;21(5):267-71. doi: 10.1358/dnp.2008.21.5.1219012.
3
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.视锥光感受器功能丧失3，一种由于Gnat2基因突变导致的全色盲新小鼠模型。
Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5017-21. doi: 10.1167/iovs.05-1468.
4
Achromatopsia as a potential candidate for gene therapy.色盲作为基因治疗的潜在候选者。
Adv Exp Med Biol. 2010;664:639-46. doi: 10.1007/978-1-4419-1399-9_73.
5
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.通过玻璃体注射携带CNGA3的腺相关病毒载体可恢复CNGA3 - / - /Nrl - / -小鼠（一种全视锥细胞型CNGA3性全色盲模型）的视锥细胞功能。
Hum Mol Genet. 2015 Jul 1;24(13):3699-707. doi: 10.1093/hmg/ddv114. Epub 2015 Apr 8.
6
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype.先天性色盲的自然发生小鼠模型：圆锥转导蛋白突变的特征及其随后的视网膜表型。
Invest Ophthalmol Vis Sci. 2013 May 9;54(5):3350-9. doi: 10.1167/iovs.13-11831.
7
Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia.基因疗法可恢复色盲症CNGA3-/-小鼠模型中缺失的视锥细胞介导的视觉。
Adv Exp Med Biol. 2012;723:183-9. doi: 10.1007/978-1-4614-0631-0_25.
8
Cone specific promoter for use in gene therapy of retinal degenerative diseases.用于视网膜退行性疾病基因治疗的特定视锥细胞启动子。
Adv Exp Med Biol. 2014;801:695-701. doi: 10.1007/978-1-4614-3209-8_87.
9
Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.在CNGA3型全色盲小鼠模型中，使用衣壳突变体AAV8载体进行长期视网膜视锥细胞拯救。
PLoS One. 2017 Nov 13;12(11):e0188032. doi: 10.1371/journal.pone.0188032. eCollection 2017.
10
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases.用于全色盲及其他视网膜疾病基因治疗的视锥细胞特异性启动子
Hum Gene Ther. 2016 Jan;27(1):72-82. doi: 10.1089/hum.2015.130.
引用本文的文献
1
Clinical and genetic features of achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials.学龄前儿童色盲的临床和遗传特征：对视网膜结构及临床试验治疗窗口期的新见解
Front Med (Lausanne). 2025 Apr 2;12:1560556. doi: 10.3389/fmed.2025.1560556. eCollection 2025.
2
Challenges in AAV-Based Retinal Gene Therapies and the Role of Magnetic Nanoparticle Platforms.基于腺相关病毒的视网膜基因治疗面临的挑战及磁性纳米颗粒平台的作用
J Clin Med. 2024 Dec 4;13(23):7385. doi: 10.3390/jcm13237385.
3
Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.遗传性视网膜疾病基因治疗试验的临床试验终点更新
J Clin Med. 2024 Sep 18;13(18):5512. doi: 10.3390/jcm13185512.
4
Gene Therapy for Achromatopsia.基因治疗色盲症。
Int J Mol Sci. 2024 Sep 9;25(17):9739. doi: 10.3390/ijms25179739.
5
Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.色盲：色觉缺陷的机制与前沿治疗方法综合分析
Front Neurosci. 2024 Jan 17;18:1265630. doi: 10.3389/fnins.2024.1265630. eCollection 2024.
6
Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones.全色盲症——无功能锥体时视觉皮层的稳定性和可塑性。
Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):23. doi: 10.1167/iovs.64.13.23.
7
Viral Vectors in Gene Therapy: Where Do We Stand in 2023?病毒载体在基因治疗中的应用：2023 年我们处于什么位置？
Viruses. 2023 Mar 7;15(3):698. doi: 10.3390/v15030698.
8
Post-developmental plasticity of the primary rod pathway allows restoration of visually guided behaviors.初级视杆通路的发育后可塑性允许视觉引导行为的恢复。
Curr Biol. 2022 Nov 21;32(22):4783-4796.e3. doi: 10.1016/j.cub.2022.09.016. Epub 2022 Sep 29.
9
Clinical applications of retinal gene therapies.视网膜基因疗法的临床应用。
Precis Clin Med. 2018 Jun;1(1):5-20. doi: 10.1093/pcmedi/pby004. Epub 2018 Jun 1.
10
Gene Therapy in Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations.基因治疗在小鼠中的应用及对缺失突变型蓝色锥体细胞单色症患者的启示。
Hum Gene Ther. 2022 Jul;33(13-14):708-718. doi: 10.1089/hum.2021.298. Epub 2022 May 16.
本文引用的文献
1
Hypoglycemia leads to age-related loss of vision.低血糖会导致与年龄相关的视力丧失。
Proc Natl Acad Sci U S A. 2006 Dec 19;103(51):19541-5. doi: 10.1073/pnas.0604478104. Epub 2006 Dec 11.
2
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.视锥光感受器功能丧失3，一种由于Gnat2基因突变导致的全色盲新小鼠模型。
Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5017-21. doi: 10.1167/iovs.05-1468.
3
Independent visual threshold measurements in the two eyes of freely moving rats and mice using a virtual-reality optokinetic system.使用虚拟现实视动系统对自由活动的大鼠和小鼠的双眼进行独立视觉阈值测量。
Vis Neurosci. 2005 Sep-Oct;22(5):677-84. doi: 10.1017/S0952523805225166.
4
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.CNGB3基因突变占所有常染色体隐性遗传性全色盲病例的50%。
Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269.
5
Comparative analysis of transcriptional profiles between two apoptotic pathways of light-induced retinal degeneration.光诱导视网膜变性两种凋亡途径之间转录谱的比较分析
Neuroscience. 2004;129(3):779-90. doi: 10.1016/j.neuroscience.2004.08.021.
6
Molecular genetics of color-vision deficiencies.色觉缺陷的分子遗传学
Vis Neurosci. 2004 May-Jun;21(3):191-6. doi: 10.1017/s0952523804213244.
7
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.由CNGA3和CNGB3中的新突变引起的全色盲。
J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437.
8
Mouse cone arrestin expression pattern: light induced translocation in cone photoreceptors.小鼠视锥细胞抑制蛋白表达模式：光诱导视锥光感受器中的易位
Mol Vis. 2002 Dec 11;8:462-71.
9
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.色盲患者视锥光感受器G蛋白α亚基基因GNAT2的突变。
Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20.
10
Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes.一个基因座控制区在人类红、绿视锥色素基因互斥表达中的作用。
Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):1008-11. doi: 10.1073/pnas.022629799. Epub 2002 Jan 2.
Zotero 插件