AAV-mediated human CNGB3 restores cone function in an all-cone mouse model of CNGB3 achromatopsia
Yuxin Zhang1
Shanshan Wang1
Miao Xu1
Jijing Pang2
Zhilan Yuan1
Chen Zhao1
1.Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029,China2.Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029,China;Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
摘要：Complete congenital achromatopsia is a devastating hereditary visual disorder.Mutations in the CNGB3 gene account for more than 50％ of all known cases of achromatopsia.This work investigated the efficiency of subretinal (SR) delivered AAV8 (Y447,733F) vector containing a human PR2.1 promoter and a human CNGB3 cDNA in Cngb3-/-/Nrl-/-mice.The Cngb3-/-/Nrl-/-mouse was a cone-dominant model with Cngb3 channel deficiency,which partially mimicked the all-cone foveal structure of human achromatopsia with CNGB3 mutations.Following SR delivery of the vector,AAV-mediated CNGB3 expression restored cone function which was assessed by the restoration of the cone-mediated electroretinogram (ERG) and immunohistochemistry.This therapeutic rescue resulted in long-term improvement of retinal function with the restoration of cone ERG amplitude.This study demonstrated an AAV-mediated gene therapy in a cone-dominant mouse model using a human gene construct and provided the potential to be utilized in clinical trials.
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分类号：R774.1(视网膜及视神经疾病)
论文发表日期：2020-03-30
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：8( 114-121 )
英文信息