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Spinocerebellar ataxia (SCA), ITPR1-related, Italian Spinone Type
| Acronym: | SCA |
| Gene: | ITPR1 |
| Mutation: | g.12880761_12880738 |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Spinocerebellar ataxia (SCA) is a genetic neuropathological and neurodegenerative disease affecting several dog breeds including Italian Spinone dogs. The signs of SCA are similar to many other canine neurodegenerative diseases and they include tremors, seizures, and loss of balance due to cerebellar atrophy. The first symptoms in affected dogs start to manifest at approximately 4 months of age and often lead to euthanasia by one year of age. Spinocerebellar ataxia is a common disease that affects dogs and variants in more than 20 genes have been previously reported as its causes. However, SCA in Italian Spinones is a consequence of a GAA repeat expansion in the ITPR1 gene that encodes a protein, an intracellular inositol triphosphate (IP3)-gated calcium channel, which regulates the release of calcium from the cytoplasm from intracellular stores. Signaling through IP3 and calcium release is involved in a number of cellular processes including cell division, synaptic transmission, gene expression, and apoptosis.
This neurodegenerative disease in Italian Spinone dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated gene 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:
Forman, O. P., De Risio, L., Matiasek, K., Platt, S., Mellersh, C. (2015). Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mammalian genome : official journal of the International Mammalian Genome Society, 26(1-2), 108–117. https://doi.org/10.1007/s00335-014-9547-6