Inflammatory Myopathy (Myositis)

three Dutch shepherd dogs

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An inflammatory myopathy (myositis) has been characterized within Dutch Shepherd dogs. Clinical signs included 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).

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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.

Contact us

Canine Genetics Lab
University of Minnesota
1988 Fitch Ave
AS/VM 295
St. Paul, MN 55108

[email protected]

Submitting a sample

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Step 1 - Select instructions for your sample type

Step 2 - Complete your submission form(s)

Step 3 - Fees & Payment

  • 1-3 dogs - $65 each
  • 4 or more - $58 each

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Cheek swabs are not included in the purchase price. Links to several purchasing options are available within the cheek swab protocol (pdf).

Result interpretation

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.