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Paroxysmal exercise-induced dyskinesia (PED) - Shetland Sheepdog Type
| Acronym: | PED |
| Gene: | PCK2 |
| Mutation: | g.4107413G>A |
| Inheritance: | Autosomal Dominant |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Paroxysmal Exercise-Induced Dyskinesia (PED) is a genetic neurological condition that is a part of a group of paroxysmal movement disorders characterized by the episodic occurrence of involuntary movements. Paroxysmal dyskinesia is mainly triggered by exercise and stress which are especially common in sheepdog breeds such as Shetland Sheepdog. Other signs of the disease in dogs can include lactic acidosis, lactaturia and hypoglycemia detected by laboratory diagnostic. PED in Shetland Sheepdogs is caused by a missense variant in the PCK2 gene encoding the mitochondrial phosphoenolpyruvate carboxykinase 2, an enyzme crucial for glucose metabolism and gluconeogenesis in liver.
This type of neurological condition is inherited as an autosomal dominant trait meaning even Shetland Sheepdogs with one mutated gene copy will develop the disease, not only those with two mutated genes. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding.
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. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to 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.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Nessler, J., Hug, P., Mandigers, P., Leegwater, P., Jagannathan, V., Das, A. M., Rosati, M., Matiasek, K., Sewell, A. C., Kornberg, M., Hoffmann, M., Wolf, P., Fischer, A., Tipold, A., & Leeb, T. (2020). Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED). Genes, 11(7), 774. https://doi.org/10.3390/genes11070774