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

Grant Status: Closed

Grant Amount: $16,000
Gary S. Johnson, DVM, PhD; University of Missouri
April 1, 2019 - September 30, 2021

Sponsor(s): Golden Retriever Foundation, Orthopedic Foundation for Animals

Breed(s): -All Dogs
Research Program Area: Neurology
Donate to Support this Research Program Area


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.


Keller, Stefan H., Gary S. Johnson, Garrett Bullock, Tendai Mhlanga-Mutangadura, Malte Schwartz, Savannah G. Pattridge, Juyuan Guo, Gregg D. Kortz, and Martin L. Katz. 2024. "Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions" Genes 15, no. 2: 246. https://doi.org/10.3390/genes15020246

Keller, S.H.; Johnson, G.S.; Bullock, G.; Mhlanga-Mutangadura, T.; Schwartz, M.; Pattridge, S.G.; Guo, J.; Kortz, G.D.; Katz, M.L. A Homozygous CNP Missense Mutation in Weimaraners With an Adult-Onset Neurodegenerative Disease, Myelin Abnormalities and Accumulation of Lipofuscin-Like Inclusions. Preprints 2024, 2024011986. https://doi.org/10.20944/preprints202401.1986.v1

Guo, J., Johnson, G. S., Cook, J., Harris, O. K., Mhlanga-Mutangadura, T., Schnabel, R. D., … Katz, M. L. (2019). Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant. Molecular Genetics and Metabolism Reports, 21, 100521. https://doi.org/10.1016/j.ymgmr.2019.100521

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.

Learn How to Help

Get Canine Health News:
Please leave this field empty
American Kennel Club Canine Health Foundation, Inc

8051 Arco Corporate Dr.
Suite 300
Raleigh, NC 27617

Tax ID# 13-3813813


© 2021 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.