{Reference Type}: Journal Article
{Title}: AAV-mediated human CNGB3 restores cone function in an all-cone mouse model of CNGB3 achromatopsia.
{Author}: Zhang Y;Wang S;Xu M;Pang J;Yuan Z;Zhao C;
{Journal}: J Biomed Res
{Volume}: 34
{Issue}: 2
{Year}: Aug 2019 30
暂无{DOI}: 10.7555/JBR.33.20190056
{Abstract}: 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.