About the condition
A previously undescribed inflammatory myopathy (myositis) has recently been characterized in five related Dutch Shepherd dogs. Clinical signs include muscle tremors, pelvic limb stiffness, progressive weakness, and severe muscle atrophy. The age of onset was 3 – 9 months, and all were euthanized prior to 2 years of age due to painful muscular degeneration. Serum creatine kinase activity was elevated in all affected dogs. Histopathologic examination of muscle biopsies revealed multifocal areas of mixed mononuclear cell infiltration, myonecrosis and regeneration. Metabolomics data from these five cases gives functional support to mitochondrial involvement.
Research carried out at the University of Minnesota and the University of California, San Diego - Comparative Neuromuscular Laboratory indicates that this disease is inherited in an autosomal recessive manner. We have identified a mutation within a disease-associated mitochondrial transporter gene SLC25A12, and all affected dogs have two copies of this mutation. Population testing of 150 Dutch Shepherds indicates that the carrier rate of this mutation is currently ~8% (this represents a biased sample population, it may change as more dogs are tested).
Genetic test available
We now offer a genetic test which allows owners to determine their dog’s status for this mutation (clear, carrier, or affected) in order to guide future breeding decisions and to definitively diagnose affected dogs.
Submitting a sample
Step 1 - Select instructions for your sample type
- Blood sample protocol (pdf)
- Cheek swab protocol (pdf)
- Dew claw & tail docking protocol (pdf)
- Semen sample protocol (pdf)
Step 2 - Complete your submission form(s)
Step 3 - Fees & Payment
- 1-3 dogs - $65 each
- 4 or more - $58 each
Need cheek swabs?
Cheek swabs are not included in the purchase price. Links to several purchasing options are available within the cheek swab protocol (pdf).
Step 4 - Ship your sample(s)
A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to Intramitochondrial Oxidation and an Inflammatory Myopathy in Dutch Shepherd Dogs.
Diane Shelton, Minor KM, Li K, Naviaux JC, Monk J, Wang L, Guzik E2, Guo LT, Porcelli V, Gorgoglione R, Lasorsa M, Leegwater PJ, Persico AM, Mickelson JR, Palmieri L, Naviaux RK.
Journal of Neuromuscular Diseases 6 (2019) 485–501 doi: 10.3233/JND-190421.