Quick Summary
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Phenotype: Sensory Ataxic Neuropathy is a progressive inherited disorder characterized by uncontrolled muscle movement, abnormal posture, and decreased spinal reflex. However, muscle atrophy is not evident.
Mode of Inheritance: Maternal/mitochondrial
Alleles: N = Normal, SAN = sensory ataxic neuropathy variant
Breeds appropriate for testing: Golden Retriever and Golden Retriever crosses
Explanation of Results:
- Dogs with N mitotype do not have the variant associated with sensory ataxic neuropathy found in Golden Retrievers.
- Dogs with N/SAN mitotype have variant and non-variant alleles. Depending upon the relative ratios, the dog may develop symptoms of disease.
- Dogs with SAN mitotype have the associated variant and are at risk to develop sensory ataxic neuropathy. If a male with a SAN mitotype is mated with an N female, none of the puppies are predicted to develop disease. If a female with a SAN mitotype is mated with an N male, all of the puppies are at risk to develop disease.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Golden Retriever Health Panel
$130 per animal
Sample Collection
Dog DNA tests are carried out using cells brushed from your dog's cheeks and gums. The preferred cytology brushes are sent to you by mail, or you may provide your own brushes. For accepted alternative brushes, click here
We recommend waiting until puppies are at least three weeks old before testing.
Step-By-Step:
- Make sure the dog has not had anything to eat or drink for at least 1 hour prior to collecting sample.
- When swabbing puppies, isolate each puppy from the mother, littermates and any shared toys for 1 hour prior to swabbing. Puppies should not have nursed or eaten for 1 hour prior to collecting sample.
- If collecting samples from more than one dog, make sure to sample one dog at a time and wash your hands before swabbing another dog.
- Label brush sleeve with name or ID of dog to be sampled.
- Open brush sleeve by arrow and remove one brush by its handle.
- Place bristle head between the dog’s gums and cheek and press lightly on the outside of the cheek while rubbing or rotating the brush back and forth for 15 seconds.
- Wave the brush in the air for 20 seconds to air dry.
- Insert brush back into sleeve.
- Repeat steps 5 - 8 for each unused brush in sleeve on a fresh area of cheek and gums. Make sure to use and return all brushes sent by the VGL. In most cases, it will be 3 brushes per dog. If using interdental gum brushes, please note that the VGL requires 4 brushes per dog and only moderate or wide interdental gum brushes are accepted.
- Do not seal brushes in sleeve.
- Place all samples in an envelope and return to the address provided.
ATTENTION:
- Do not collect saliva/drool – the key to obtaining a good sample is getting cheek cells on the swab
- Do not rub swab on the dog’s tongue or teeth – this will result in poor quality sample
- Do not collect a sample from a puppy that has recently nursed – the mother’s genetic material can rub off on the puppy’s mouth and contaminate the sample
Sensory ataxic neuropathy is a heritable neurodegenerative disease in Golden Retrievers that affects both the central and peripheral nervous system. It is characterized by a lack of muscle control and coordination as well as decreased spinal reflexes without muscle atrophy. Dogs with sensory ataxic neuropathy (SAN) may have difficulty walking or maintaining normal posture, actively avoid slippery surfaces, have an altered gait and male dogs have been reported to urinate without leg lifting. Symptoms appear slowly in puppies and may not be initially obvious. The disease is progressive, and symptoms may become so severe that dogs have a poor quality of life and thus are euthanized.
Sensory ataxic neuropathy is a mitochondrial disorder and is caused by the deletion of a single base pair at position 5,304 in the tRNATyr mitochondrial gene. Male and female dogs can develop the disease, but mitochondrial disorders are thought to only be inherited through the maternal line. The mitochondria is a specialized structure (organelle) of the cell that has its own DNA. This structure is involved in creating energy that the cell uses to perform all functions. The mitochondria are maternally inherited as these organelles in the male reproductive cells (sperm) are usually destroyed after fertilization and so mostly the mitochondria from the egg survive and get passed down to the next generation.
All puppies produced from a female with a SAN mitochondrial variant may develop sensory ataxic neuropathy. A male dog with a SAN mitochondrial variant, mated to an N female, is not predicted to produce puppies with sensory ataxic neuropathy.
The mutation in tRNATyr is thought to be responsible for causing sensory ataxic neuropathy. Although uncommon, mitochondrial disorders can exhibit heteroplasmy, that is when both normal and variant mitochondrial DNA (mtDNA) are present in a cell, and the proportion of one to the other may vary across the body. A high ratio of variant to normal mtDNA may lead to development of sensory ataxic neuropathy, while dogs with an overall low ratio of the tRNATyr variant may be clinically normal. Interactions with other currently unknown genes may also influence the risk of developing sensory ataxic neuropathy.
Testing for sensory ataxic neuropathy can identify dogs that will likely develop symptoms. Dogs reported with a SAN mitochondrial variant should be clinically evaluated. Breeders can use this test to screen their potential breeding female dogs to avoid producing affected dogs.
