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Inflammatory Myopathy (IM) - Dutch Shepherd Type
| Acronym: | IM |
| Gene: | SLC25A12 |
| Mutation: | c.1046T>C |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Inflammatory myopathy is a genetic disease and part of a larger group of disorders characterized by entrance of inflammatory cells into muscle. It has been previously associated with different dog breeds, but recently it was identified in Dutch Shepherd dogs too. The signs of IMs include muscle weakness, muscle tremors, pelvic limb stiffness and muscle atrophy, similar to other muscle diseases. The cause of IM in Dutch Shepherd dogs is a single mutation within the SLC25A12 gene. The gene product of SLC25A12 has an important role in transport of amino acids across the inner mitochondrial membrane.
Inflammatory myopathy in Dutch Shepherd dog is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Shelton, G. D., Minor, K. M., Li, K., Naviaux, J. C., Monk, J., Wang, L., Guzik, E., Guo, L. T., Porcelli, V., Gorgoglione, R., Lasorsa, F. M., Leegwater, P. J., Persico, A. M., Mickelson, J. R., Palmieri, L., & Naviaux, R. K. (2019). A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs. Journal of neuromuscular diseases, 6(4), 485–501. https://doi.org/10.3233/JND-190421