Prevention of Photoreceptor Cell Loss in a Cln6^nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells.

ABSTRACT: The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders characterized by general neurodegeneration and premature death. Sight loss is also a major symptom in NCLs, severely affecting the quality of life of patients, but it is not targeted effectively by brain-directed therapies. Here we set out to explore the therapeutic potential of an ocular gene therapy to treat sight loss in NCL due to a deficiency in the transmembrane protein CLN6. We found that, although Cln6^nclf mice presented mainly with photoreceptor degeneration, supplementation of CLN6 in photoreceptors was not beneficial. Because the level of CLN6 is low in photoreceptors but high in bipolar cells (retinal interneurons that are only lost in Cln6-deficient mice at late disease stages), we e

SUBMITTER: Kleine Holthaus SM 

PROVIDER: S-EPMC5993939 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature