Inflammatory Myopathy (Myositis)
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).
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.
Scientific References
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.
Contact Us
Canine Genetics Lab
University of Minnesota
1988 Fitch Ave
AS/VM 295
St. Paul, MN 55108
[email protected]
612.624.5322
z.umn.edu/caninegenetics
Step 1 - Select instructions for your sample type
Step 2 - Complete your submission form(s)
Step 3 - Submit Payment
- 1-3 Dogs - $65 ea.
- 4 or more - $58 ea.
Need cheek swabs? Cheek swabs are not included in the purchase price. Links to several purchasing options are available within the cheek swab protocol.
Step 4 - Ship your sample(s)
Result Interpretation
Related Links
Canine Genetic Testing
- 2,8- Dihydroxyadenine Urinary Stones
- Alaskan Malamute Polyneuropathy
- Exercise Induced Collapse
- Great Pyrenees Health Panel
- Hereditary Calcium Oxalate Urolithiasis, Types 1 & 2
- Inflammatory Myopathy (Myositis)
- Leonberger Health Panel
- Leukoencephalomyelopathy
- Persistent Müllerian Duct Syndrome
- Saint Bernard Laryngeal Paralysis & Polyneuropathy
- Sarcoglycan Deficient Muscular Dystrophy
- Toy Manchester Terrier / English Toy Terrier Health Panel
- Ullrich Congenital Muscular Dystrophy
- Xanthinuria
Canine Genetic Research
- Addison's Disease - Autoantibody Study
- Addison’s Disease – Genetics Study in Portuguese Water Dogs
- Addison’s Disease – Standard Poodle MHC Study
- Atypical Seizures / Paroxysmal Dyskinesia
- Border Collie Collapse
- Calcium Oxalate Urinary Stones
- Hyperlipidemia
- Idiopathic Epilepsy
- Immune-Mediated Hemolytic Anemia (IMHA)
- Leonberger Polyneuropathy / Laryngeal Paralysis
- Pulmonary Fibrosis
- Whippet Exercise Induced Hyperthermia