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Dog Glycogen Storage Disease Ia (GSD Ia) - German Pinscher Type
| Acronym: | GSD Ia |
| Gene: | G6PC |
| Mutation: | c.634_635insN[76] |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Glycogen Storage Disease Ia (GSD Ia) is a common genetic disorder of carbohydrate metabolism that can be found in humans and various animals, including dogs. More than 20 variants in genes are known to cause GSD and therefore, several types of GSD are distinguished. The type of GSD found in German Pinscher dogs, Glycogen Storage Disease Ia, is the most widespread variant and it is caused by a mutation within the G6PC1 gene. G6PC1 encodes a subunit one of a protein called glucose‐6‐phosphatase that plays an important role in the breakdown of sugar molecule called glucose 6-phosphate that produces the simple sugar glucose, which is the primary source of energy for most cells in the body. The disease is characterized by severe hypoglycemia and enlargement of the liver due to hepatic glycogen accumulation early in life. The affected dogs show signs typical for hypoglycemia that include poor weight gain, increased liver size, bilateral blindness, and seizures.
This type of disturbed glucose metabolism found in German Pinscher dogs is inherited as an autosomal recessive trait requiring both mutated G6PC1 genes for the disease to develop. Dogs carrying only one mutated gene will not develop the disease but may act as carriers and potentially pass the mutation to their offspring. Early genetic testing can help identify carriers of the specific mutation 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:
Christen, M., Reineking, W., Beineke, A., Jagannathan, V., Baumgärtner, W., Leeb, T. (2021). Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A). Animal genetics, 52(6), 900–902. https://doi.org/10.1111/age.13146
Petrova, I. O., Smirnikhina, S. A. (2022). Studies on glycogen storage disease type 1a animal models: a brief perspective. Transgenic research, 10.1007/s11248-022-00325-7. Advance online publication. https://doi.org/10.1007/s11248-022-00325-7