Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy
| Autor: | Chekuri, Anil, Sahu, Bhubanananda, Chavali, Venkata Ramana Murthy, Voronchikhina, Marina, Soto-Hermida, Angel, Suk, John J, Alapati, Akhila N, Bartsch, Dirk-Uwe, Ayala-Ramirez, Raul, Zenteno, Juan C, Dinculescu, Astra, Jablonski, Monica M, Borooah, Shyamanga, Ayyagari, Radha |
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| Rok vydání: | 2019 |
| Předmět: |
Knockout
Genetic Vectors Medical Biotechnology Clinical Sciences Retinal Pigment Epithelium Neurodegenerative Eye Mice Gene therapy Retinal Diseases Electroretinography Genetics Animals Humans 2.1 Biological and endogenous factors Genetic Predisposition to Disease Aetiology Tomography Eye Disease and Disorders of Vision MFRP mouse model Animal Neurosciences Membrane Proteins AAV Genetic Therapy Dependovirus Immunohistochemistry Phenotype Optical Coherence Disease Models retinal degeneration RPE Biomarkers Biotechnology |
| Zdroj: | Human gene therapy, vol 30, iss 5 |
| Popis: | Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable, however, with some patients maintaining good central vision and cone function till late in the disease. A knock-in mouse model with the c.498_499insC mutation in Mfrp (Mfrp KI/KI) was developed to understand the effects of these mutations in the retina. The model shares many of the features of human clinical disease, including reduced axial length, hyperopia, retinal degeneration, retinal pigment epithelial atrophy, and decreased electrophysiological responses. In addition, the eyes of these mice had a significantly greater refractive error (p |
| Databáze: | OpenAIRE |
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