Novel Mutations Found in Cats Provide Insight into Human Eye Diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative announced on October 16, 2014, groundbreaking discoveries of novel mutations in the cat genome found to correlate with two human eye diseases, retinitis pigmentosa and Leber’s Congenital Amaurosis. The 99 Lives Cat Genome Sequencing Initiative is a joint project among the University of Missouri, the University of California, Davis, and industrial partners. The Maverix Analytic Platform was used to analyze this data, and Maverix hosts the Initiative’s genome and analysis data in a publicly-accessible “Community of Discovery.” Leber’s Congential Amaurosis (LCA) is a rare inherited eye disease that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. LCA is one of the most common causes of blindness in children. With onset at birth or early in life; two to three per 100,000 newborns are born with LCA. Persian cats can suffer from autosomal recessive progressive retinal atrophy (PRA), a disease which is similar to LCA. Association studies of Persian cats localized the causal gene for Persian PRA to cat chromosome E1, which is homologous to human chromosome 17. Whole genome sequencing revealed mutations in the gene AIPL1. A variety of mutations in AIPL1 have been identified as causes of various types of LCA in humans. By finding that the putative causative mutation for Persian PRA is in the gene that can cause LCA in humans, researchers may be able to develop models to better understand the disease pathways associated with this rare eye disease and ultimately develop diagnostic and screening tests that will improve treatment. Retinitis pigmentosa is a condition affecting about 1 in 4,000 people in the United States.
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