Peer-reviewed veterinary case report
Gene linked to inherited glaucoma in Beagle dogs
By John Kuchtey et al.·Published in PLoS Genetics·2011·View original on DOAJ →
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Original publication title: Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.
- Species:
- dog
Plain-English summary
A group of Beagle dogs with inherited primary open angle glaucoma (POAG) were studied to understand the genetic causes of this eye condition, which can lead to blindness due to high eye pressure. Researchers identified a specific gene, ADAMTS10, that appears to play a role in the disease. This gene variant may affect how fluid drains from the eye, contributing to increased pressure. Understanding this genetic link could help develop better treatments for dogs suffering from glaucoma in the future.
People also search for: Beagle glaucoma treatment · dog eye pressure problems · ADAMTS10 gene in dogs
Abstract
Primary open angle glaucoma (POAG) is a leading cause of blindness worldwide, with elevated intraocular pressure as an important risk factor. Increased resistance to outflow of aqueous humor through the trabecular meshwork causes elevated intraocular pressure, but the specific mechanisms are unknown. In this study, we used genome-wide SNP arrays to map the disease gene in a colony of Beagle dogs with inherited POAG to within a single 4 Mb locus on canine chromosome 20. The Beagle POAG locus is syntenic to a previously mapped human quantitative trait locus for intraocular pressure on human chromosome 19. Sequence capture and next-generation sequencing of the entire canine POAG locus revealed a total of 2,692 SNPs segregating with disease. Of the disease-segregating SNPs, 54 were within exons, 8 of which result in amino acid substitutions. The strongest candidate variant causes a glycine to arginine substitution in a highly conserved region of the metalloproteinase ADAMTS10. Western blotting revealed ADAMTS10 protein is preferentially expressed in the trabecular meshwork, supporting an effect of the variant specific to aqueous humor outflow. The Gly661Arg variant in ADAMTS10 found in the POAG Beagles suggests that altered processing of extracellular matrix and/or defects in microfibril structure or function may be involved in raising intraocular pressure, offering specific biochemical targets for future research and treatment strategies.
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Search related cases →Original publication on DOAJ: https://doi.org/10.1371/journal.pgen.1001306