Lysosomal Storage Disease Characterized in Dalmatian Dogs

06/08/2022

CHF Grant 02604: Clinical, Pathologic, and Molecular Genetics Investigations of Canine Lysosomal Storage Diseases and Related Diseases

Publication:
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

What can we learn?
Lysosomal storage diseases are a group of heritable disorders characterized by the accumulation of incompletely metabolized molecules in the lysosomes, or recycling centers, of cells. These disorders have been described in both dogs and humans and many exhibit autosomal recessive inheritance (two copies of the mutated gene are needed for severe disease). A team of investigators at the University of Missouri has been characterizing the underlying genetic mutations for these disorders to help dog breeders make informed decisions and develop animal models for corresponding human disorders. A novel causative mutation was recently identified in Dalmatian dogs with early-onset neurologic disease that should be classified as a lysosomal storage disease. Clinical signs of the disease include ataxia, disorientation, and restlessness, to name a few.

Conclusion:
A progressive, hereditary, neurodegenerative disorder associated with a mutation in the CNP gene was characterized in Dalmatian dogs. This represents a novel canine lysosomal storage disease. Genetic testing can help with disease diagnosis and appropriate breeding recommendations.

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