Request for storage of DNA-material from Russians and Nebelungs

Dear Russian- and Nebelungbreeders and – owners,

Possibly the news has reached you, that recently a Russian Blue here has been diagnosed with HCM through radiology. (For more information about this condition, follow the HCM link on our website).
This case doesn’t just concern the afflicted cat, the owner, the breeder or the owners of immediate family members, we should all be very concerned about this!

HCM in a cat can only rarely be seen as an isolated case. If not a side effect of another affliction, HCM is hereditary and thus must have had to have come from somewhere.
In a closed population like that of the Russian Blue, it will also remain present in the population if nothing is done.
In general we can say, that if 1% of the population suffers from hereditary HCM, 18% of the population is already a carrier of this defect. (source: Ed J. Gubbels, geneticist, in “genetic maintenance of purebred cat populations”, dec. 2004).
Because the genetic predisposition for HCM has a variable expression, it is possible that cats, even older animals, are carriers of one or more of the defective genes that cause the disease, without ever developing HCM themselves.
Cases are known where animals bred true for the condition (were homozygous for it), passing it on to a 100% of their offspring, without ever developing the condition themselves during their entire breeding career!
This means that we can assume with reasonable certainty that we are all already dealing with this now in the animals we breed, even if we don’t know it yet, and if not at this point in time, we soon will be.
There are clues that more animals of our breeds have been afflicted by this condition, however, without official autopsy files and/or radiological scans by specialists, this information is not solid enough to work with.
This does stress the importance of HCM scanning and autopsy being conducted after death, though!

What we can work with at this point in time, are DNA-samples of as large a part of the population as possible. If we start storing DNA now, accurate measures can be taken as soon as new cases occur. Not only will it be possible to investigate if the DNA-markers found for other breeds (Maine Coon and Ragdoll) apply to our breed, having DNA stored will also help enable us to approach laboratories to conduct breed specific HCM research to identify a marker.
Those next cases will start occurring; there’s no way around it!
We should also realize, that a next case can occur in our own catteries just as easily as in somebody else’s.

DNA-markers are important for genetic diseases like HCM. With such a marker it is possible to identify carriers of the disease through a simple DNA-test almost immediately after birth, and to exclude them from breeding.
This way, we can prevent animals being used for breeding that in a later stage of their lives would turn out to have passed on the genetic makeup for HCM to their offspring.
It is of upmost importance to find the markers for these genes as soon as possible. The genes can then be stopped from spreading through the population to a point where we can’t afford to exclude carriers from breeding anymore because of the effects on the genepool. This point is reached rapidly, as we can tell after looking at other breeds, like the Persian and its PKD or the Maine Coon and its HCM. The danger of this is even greater for our breed, because the genepool appears to be so much smaller in size.

We don’t want to make it seem like HCM can be eradicated as soon as we find a single marker; it has already been proven that multiple mutations exist that can cause HCM. The Maine Coon and Ragdoll for instance have one mutation in common, but both breeds also have their own separate mutations that only appear to be uniquely present in that breed.
It is expected that over the course of time a dozen or more new mutations will be identified.
For now, DNA-tests will not be a complete replacement for radiographic testing, but they are useful babysteps to help discover new varieties of HCM in time (before cats are bred) en to lose the known mutations completely within the span of a few generations.

For the research for markers, DNA of healthy cats as well as cats that suffer from HCM is needed. The SBR-RBF has signed an agreement with the institute Genetic Counselling Services for their management of a DNA-database, and, in a later stage, their supervision of research for DNA-markers for our breed, in close consultation with us.
This is why we want to make this urgent plea for your help!

Please make DNA-samples available for storage by the GCS database!
This is how to specifically go about this:
If you want to have DNA sample from your Russian or Nebelung stored, you should first complete the form (form declaration blood sample, you can find this hereor via he link in the menu). Check the box for “DNA database”.
Next, you take this form with you to your veterinarian who will draw an EDTA blood sample from your cat. This should preferably be 4 milliliters or more.
To ensure the blood sample indeed belongs to that specific animal, you need to bring your pet’s passport as well as (copies of) its pedigree papers.
Please note that your cat must also carry a microchip. The veterinarian will check the cats identity using of those means combined and will then sign the statement that the blood sample does indeed belong to the animal which registrationnumbers are on the form.
If the animal tested for HCM before, and especially if it was suspect or tested positive for HCM, you should also bring a copy of those testresults.
Don’t let it keep you from cooperating if your cat hasn’t been tested yet or has tested negative so far though! The data in the database can be updated at any given time.
Your veterinarian will send the sample, together with the filled out form, a copy of the pedigree and, if applicable, a copy of previous testresults, to GCS.
GCS will process the request further and will send you a certificate that confirms your bloodsample has been stored in the DNA-database.
The DNA-sample and the accompanying information will be stored for 25 years.

The costs of bloodsample storage in the DNA-database are €25,50 (or the equivalent in your local currency).
These are the onetime costs per cat.
While the research is still in development, the SBR-RBF is willing to pay for storage of samples from Russians that have been tested positive by a specialist.
If you want to qualify for this compensation, please contact one of the members of the board of the SBR-RBF.
The compensation by the SBR-RBF does not include the veterinary bill; you’ll need to settle this with the veterinarian in question.
It may be more cost-effective to have the blood drawn at a time you’re taking your cat in for other reasons, like a SNAP-test, vaccinations, determination of blood type etc. This will save you the costs of a separate appointment.

Please note that the DNA samples that are made available are not only useful when researching HCM, but can and may also be used for other (health or DNA-related) research. For more information, please read the article ”DNA-database, a biological archive” by Ed J. Gubbels of Genetic Counselling Services. (not yet available in English)