Blog- February 2013

Photo credit- M. Gurney

Pompe Disease Test

9th February 2013

 

 

Annika, Mushka, Nuppu and Asta have had swabs collected to be tested for Pompe disease. This is a newly available test which follows from research conducted by Hannes Lohi from Helsinki University. Pompe’s disease (GSDII) has been found in the Lapponian breeds and is caused by an enzyme deficiency. The following information is directly from the Genoscoper website:



Glycogen storage disease type II is also known as acid maltase deficiency or generalized glycogenosis type II. Glycogen storage disease type II is a disorder of glycogen metabolism that affects Finnish Lapphund, Swedish Lapphund and Lapponian herder. The disease can manifest as vomiting, muscle weakness with exercise intolerance, and poor growth. Hannes Lohi's research group at Helsinki University and Folkhälsan has identified the mutation causing Pompe's disease. The disease shows autosomal recessive inheritance.



Glycogen storage diseases (GSD) are disorders of glycogen metabolism. GSD type II (GSD II) is a form of the disorders that affects Lapland Dogs and Lapland Reindeer Dogs. In GSD II, there is a deficit in breakdown of glycogen due to lack of the acid alpha-glucosidase enzyme. The result is cellular glycogen accumulation, and altered glucose homeostasis in tissues such as cardiac, skeletal, and smooth muscle. Signs of GSD II include poor growth, recurrent vomiting and regurgitation due a dilated esophagus (food pipe), progressive muscle weakness leading to exercise intolerance, frequent panting, and heart abnormalities. First symptoms are typically observable at 7 month of age, and affected dogs usually die or are euthanized before 2 years of age as long-term management of the disease is currently ineffective.
The genetic test results are reported as follows:



  • Normal: The dog carries two normal copies of the gene and has no or reduced likelihood of developing the disease during its life.
  • Carrier: The dog carries the mutation in one of its chromosomes and transfers it to approximately 50% of its offspring. If a carrier must be mated, it should only be with a genetically tested healthy non-carrier.
  • Affected: The dog carries two copies of the mutation and is at high risk of developing GSD II during its life. An affected animal, even if not yet showing symptoms, will pass on the mutation to all its offspring, and its use in breeding is not recommended.

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References:
Walvoort, HC., Dormans, JA., van den Ingh, TS. Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46, 1985. Pubmed: 3921759.
Walvoort, HC., Slee, RG., Sluis, KJ., Koster, JF., Reuser, AJ. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-98, 1984. Pubmed: 6391168.





 

The following link is a list published by the Lapphund Club of Finland of test results for Pompe disease: http://www.lappalaiskoirat.fi/?id=jalostus/pompen_slk


The incidence of this disease has been low. This is not something for Lappie owners to be alarmed about; as with other genetic tests available this will simply assist breeders in making future breeding decisions.



The test was very simple and involved swabbing inside the dogs mouth. The swabs collected will now be sent to Helsinki for testing, results will be published here when received.



Testing is being organised through the Finnish Lapphund Club of NSW.

 

New members of Orical Kennels

17th February 2013

 

 

Once upon a time I dreamt about importing a puppy from Dagolas Kennels in Finland. Dagolas have a reputation for breeding quality Finnish Lapphunds with many Dagolas dogs having experienced great success in the show ring.  The Dagolas dogs possessed precisely the breed type I was looking for. Sitting here in Australia I would spend countless hours researching the Dagolas dogs, their pedigrees and endlessly searching for more photographs of them. I contacted Miia Vääräniemi from Dagolas Kennels and was over the moon when she agreed to send a puppy from her Z litter to me in Australia. 



Sometimes it is interesting how life turns out....



After 27 litters spanning almost a decade, an ever developing equine related business meant that Miia did not have as much time to focus on her kennel.  In October 2012, Miia and I spoke about her concern for her two young bitches, Dagolas Zeena and Dagolas Ystävä. Miia wasn't finding the time to show them and didn't envision having time to breed them. So Miia offered for them to come to us in Australia, of course I leapt at the chance!



Fast forward a few months to February 2013. Miia, with 5 Lappies still at home, still thought this too many. So we selected Dagolas Kullannuppu (Pimu) and Turnukan Ivalo (Iilvari) to come to Orical Kennels. 



All four dogs are outstanding representations of the breed. We feel utterly privileged to be entrusted with such special dogs. We are very much looking forward to the end of May, to welcome Asta and Nuppu, and then mid August to welcome Pimu and Iilvari. It will be very special to see these amazing four dogs from Dagolas kennels here in Australia.