AAV-mediated human CNGB3 restores cone function in an all-cone mouse model of CNGB3 achromatopsia | Zendy

Yuxin Zhang | Zendy; Shanshan Wang | Zendy; Miao Xu | Zendy; Jijing Pang | Zendy; Zhilan Yuan | Zendy; Chen Zhao | Zendy

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AAV-mediated human CNGB3 restores cone function in an all-cone mouse model of <i>CNGB3</i> achromatopsia

Author(s) -

Yuxin Zhang,

Shanshan Wang,

Miao Xu,

Jijing Pang,

Zhilan Yuan,

Chen Zhao

Publication year - 2020

Publication title -

journal of biomedical research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.617

H-Index - 31

eISSN - 2352-4685

pISSN - 1674-8301

DOI - 10.7555/jbr.33.20190056

Subject(s) - achromatopsia , erg , cone (formal languages) , genetics , electroretinography , retinal disorder , microbiology and biotechnology , gene , biology , physics , retinal , biochemistry , computer science , algorithm

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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