
Ataxia Test Submission to Dogs NSW
Due to the recent ability to test dogs for this terrible hereditary disease The American Staffordshire Terrier Club of NSW Inc has forwarded the following submission to Dogs NSW in the hope to have mandatory Ataxia testing implemented for all registered breeders in Australia. Each state breed club and Amstaff breeders across Australia will have the opportunity to reply with their thoughts and opinions on this submission in due course.
The purpose of this test being introduced as mandatory is in aid to prevent there from being any further Amstaffs in Australia suffering this terrible illness and to assist all potential Amstaff owners to make a more informed decision when purchasing their Amstaffs.
Attn: Dogs NSW Board
of Directors
Re: Introduction of
mandatory health testing for hereditary Cerebellar Ataxia in the American
Staffordshire Terrier.
To The Secretary;
The American Staffordshire Terrier Club of NSW Inc would like to put a submission forward; To introduce mandatory DNA testing for a debilitating hereditary disorder in the American Staffordshire Terrier called Cerebellar Ataxia, for which a DNA marker has been recently found with ANTAGENE in France.
Many breeders worldwide including in Australia have already started testing their dogs for this disorder, however we would like to see ultimately that this becomes something all breeders do.
What is Cerebella Ataxia
Cerebellar Ataxia is an autosomal recessive neurological disease. The first signs of the disease usually appear between 3 and 5 years of age in affected dogs. They are: loss of balance, difficulty cornering, and falling when shaking their head. As the signs progress, most dogs seem to have difficulty initiating movements. When they become unable to walk without falling repeatedly, owners usually make the difficult choice to euthanize.
The incidence of Cerebellar Ataxia has increased greatly in the last few years due to affected dogs being bred before they exhibited the first symptoms.
Until the availability of this new DNA test, it was also impossible to detect carriers. Two carriers when bred together produce litters that have the potential of producing affected dogs also.
For a dog to develop this disease they must inherit two defective copies of the gene (1 from each parent).
Diagnosis
ANTAGENE, a DNA
research laboratory in France, has commercialised a DNA test that detects
Cerebellar Ataxia in American Staffordshire Terriers. The test identifies the
following:
|
DNA Test Result |
The Dog Is |
Genetic Status |
Will the dog develop the
disease? |
Will the dog transmit the
genetic anomaly? |
|
Normal Homozygous |
Clear |
2 normal copies of the
implicated gene |
NO |
NO |
|
Heterozygous |
Carrier |
1 normal copy and 1 defective
copy of the implicated gene |
NO |
YES, Statistically to 50% of
its progeny |
|
Mutated Homozygous |
Affected |
2 defective copies of the
implicated gene |
YES |
YES, to 100% of its progeny |
Identification of
the implicated gene and validation of the test resulted from collaborative
research efforts between the laboratory of Molecular and Cellular Genetics (Dr
Marie Abitbol, Dr Laurent Tiret) and the laboratory of Neurobiology (Dr Stephane
Blot) from the Alfort School of Veterinary Medicine (ENVA), as well as the
CNRS-University and ANTAGENE.
Pilot studies
achieved during the development of the test revealed a high frequency of carrier
dogs in the French population of American Staffordshire Terriers (30%). In
addition, collaboration with Dr Natasha Olby (North Carolina State University,
Raleigh) confirmed that dogs in the United States carry the same disease causing
mutation as the one identified in the French dogs.
This new DNA test is a revolution for breeders and owners of Amstaffs. Thanks to
a simple non-invasive cheek swab (cytobrush), a veterinarian can provide cell
samples that can be analysed by ANTAGENE to identify affected Amstaffs before
the first clinical signs as well as detecting carriers.
This allows breeders to exclude matings at risk (carrier x
carrier producing affected dogs) and transmission of the disease-causing copy of
the gene. Identification of carriers as well as affected AmStaffs is important
to avoid the dissemination of the genetic defect in the breed.
The test is patented world-wide by INRA and ENVA. ANTAGENE has an exclusive
international license to provide this test.
Recommendations
According to the mode of inheritance by which Cerebellar Ataxia manifests in the American Staffordshire Terrier, breeders who use this test to their advantage can ensure that no puppy sold in the future will ever develop this disease. At the same time we hope introducing mandatory testing will encourage breeders to not only test their breeding stock but also breed away from this disease so that it no longer exists within our gene pool and to avoid the type of matings that may pose a risk of producing affected puppies.
We do not recommend culling any carriers and affected dogs from the gene pool at this stage as this will destroy an already very limited gene pool, if these dogs are bred to clear dogs then none of the offspring will ever become affected as offspring require one copy of the gene for this disease from each parent. So by breeding a Carrier or Affected to a Clear you will end up with carriers or clears in the litter but no affected.
There is also an issue of this test being relatively new, so we also realise that many people may have frozen semen from deceased dogs or untested dogs which was purchased prior to the test being available – We believe these people should be allowed to use this semen in due course provided this semen is being bred to a Clear female.
We have the worked out following break-down of possibilities for breeding practices and possible outcomes, which we recommend for implementation:
|
Genetic
make-up of breeding |
Genetic
Outcome |
Notes/Recommendation |
|
Normal Homozygous
(Clear)
to
Normal Homozygous
(Clear) |
All
progeny are Normal Homozygous (Clear) |
None of these offspring will ever require DNA testing and can never
produce the disease. |
|
Normal Homozygous
(Clear)
to
Heterozygous
(Carrier/Unaffected) |
Statistically 50% of progeny will be Normal Homozygous (Clear) and 50%
of progeny will be Heterozygous (Carrier/Unaffected) |
All
progeny can be sold unaffected by the disease, any animal retained or
sold for breeding purposes must be DNA tested prior to sale or use in a
breeding program (whichever occurs first) to determine whether they have
normal or carrier status. |
|
Heterozygous
(Carrier/Unaffected)
to Heterozygous
(Carrier/Unaffected) |
Statistically 25% of progeny will be Normal Homozygous (Clear), 50% will
be Heterozygous (Carrier/Unaffected) and 25% will be Mutated Homozygous
(Affected) |
In
a numerically small breeding population as we have here in Australia
this kind of risk breeding may be necessary, however all progeny must be
DNA profiled prior to sale and any affected progeny should be euthanized
or sold to a home that is fully aware of this pups condition. All
remaining progeny can be sold as unaffected by the condition. |
|
Normal Homozygous (Clear)
to
Mutated Homozygous (Affected) |
All
progeny will be Heterozygous (Carrier/Unaffected) |
No
testing is ever required as genetic status of these progeny is known.
All progeny can be sold as unaffected by the condition. Those retained
or sold for breeding purposes must be identified as Heterozygous
(Unaffected/Carrier) |
|
Genetic
make-up of breeding |
Genetic
Outcome |
Notes/Recommendation |
|
Normal Homozygous (Clear)
to An
Untested Animal (Unknown) |
In
this case we know that genetically these pups can only be Normal
Homozygous (Clear) or Heterozygous (Carrier/Unaffected) there will not
be any Mutated Homozygous (Affected) |
All
progeny can be sold as unaffected by the disease. Any animal retained or
sold for breeding purposes must be DNA tested prior to sale or use in a
breeding program (whichever occurs first) to determine whether they have
normal or carrier status.
This type of breeding will be necessary particularly for those who have
already imported frozen semen prior to this test being available and
hold it in storage for use in due time. These dogs may go untested or
even be deceased – for this reason we do not feel that it should be
mandatory to have both parents tested if one parent is clear & progeny
kept or sold for breeding are tested to determine their genetic status.
We
do not recommend breeding an untested animal (unknown genetic status) to
anything other than Normal Homozygous (Clear). |
I have also attached a document from ANTAGENE with contact details & further information about the test now available for your reference.
Please note we have advised all other state currently affiliated breed clubs (ASTC of VIC, ASTC of WA and ASTC of QLD) of our submission to you and all clubs will be forwarding you their own set of recommendations in response to our submission in due course.