02604: Clinical, Pathologic, and Molecular Genetics Investigations of Canine Lysosomal Storage Diseases and Related Diseases
Grant Status: Closed
Abstract
Lysosomes are organelles within cells that contain enzymes to breakdown biomolecules as part of normal cellular function. Lysosomal storage diseases (LSDs) occur when genetic defects render lysosomes unable to completely degrade complex biochemicals and partially degraded biochemicals then accumulate within the lysosomes of cells. These abnormal lysosomes can be detected by light and/or electron microscopy. This group of disorders occur in many species, including humans, cats and dogs. The team of investigators has identified the likely causes for 17 different canine LSDs in the last 15 years, many described in dogs for the first time with both purebred and mixed breed dogs identified. Because of these successes, the laboratory receives blood samples from suspected canine LSD cases and is asked to help diagnose these dogs. This work will provide dog breed clubs with a mechanism that allows them to participate in ongoing and future research into novel canine LSDs, thus contributing to the health of their breed. Genetic tests for LSDs help breeders make sound breeding decisions for the health of their breeds, and help veterinarians diagnose these rare but important diseases.
Publication(s)
Bullock, G., Johnson, G. S., Mhlanga-Mutangadura, T., Petesch, S. C., Thompson, S., Goebbels, S., & Katz, M. L. (2022). Lysosomal Storage Disease Associated with a CNP Sequence Variant in Dalmatian Dogs. Gene, 146513. https://doi.org/10.1016/j.gene.2022.146513
Help Future Generations of Dogs
Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.
