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Preclinical Model for a Dominant Inflammatory Eye Disease

May 18 2015

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20/20 Blog

CAPN5 is a gene that encodes for a calcium-activated protease. This protease plays an important role in the human body by cleaving different proteins and acting in different cell signaling cascades. Genetic mutations in CAPN5 lead to the human disease ADNIV, an autosomal dominant blinding disorder. We introduced one of the most common genetic mutations causing ADNIV into a human CAPN5 gene sequence and created a transgenic mouse model that carries the human CAPN5 gene with this genetic mutation. We designed our mouse model so that the mutation was expressed by the photoreceptor cells of the retina, which are affected in ADNIV disease. We performed clinical, histological and molecular analyses and found that the transgenic mice developed a similar clinical ADNIV disease progression to human patients. This mouse offers a model with therapeutic testing utility for ADNIV and other related blinding disorders, such as uveitis.