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Proc Natl Acad Sci U S A ; 114(42): 11199-11204, 2017 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-28973933

RESUMO

Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss worldwide, with elevated intraocular pressure (IOP) a major risk factor. Myocilin (MYOC) dominant gain-of-function mutations have been reported in ∼4% of POAG cases. MYOC mutations result in protein misfolding, leading to endoplasmic reticulum (ER) stress in the trabecular meshwork (TM), the tissue that regulates IOP. We use CRISPR-Cas9-mediated genome editing in cultured human TM cells and in a MYOC mouse model of POAG to knock down expression of mutant MYOC, resulting in relief of ER stress. In vivo genome editing results in lower IOP and prevents further glaucomatous damage. Importantly, using an ex vivo human organ culture system, we demonstrate the feasibility of human genome editing in the eye for this important disease.


Assuntos
Sistemas CRISPR-Cas , Proteínas do Citoesqueleto/genética , Proteínas do Olho/genética , Edição de Genes , Terapia Genética/métodos , Glaucoma de Ângulo Aberto/terapia , Glicoproteínas/genética , Animais , Linhagem Celular , Glaucoma de Ângulo Aberto/genética , Humanos , Técnicas In Vitro , Camundongos
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