Pompe disease in finnish and swedish lapphunds
Pompe Disease is a glycogen storage disorder characterised by a range of symptoms including muscular weakness and heart problems. The genetic mutation has been identified in a gene called acid–α-glucosidase by researchers from Finland and the Netherlands.
How is the disease inherited?
The disorder shows an autosomal recessive mode of inheritance, which means that two copies of the defective gene (one inherited from each parent) have to be present for a dog to be affected by the disease.
Individuals with one copy of the defective gene and one copy of the normal gene, called carriers, show no signs of disease but can pass the defective gene onto their offspring. When two carriers are crossed, 25% (on average) of the offspring will be affected by the disease, 25% will be clear and the remaining 50% will themselves be carriers.
After DNA testing the results will be defined as follows:
CLEAR: These dogs have two copies of the normal gene and will not develop POMPE DISEASE as a result of the mutation we are testing for, although we cannot exclude the possibility they might develop a similar condition due to other causes or the effect of other, unidentified mutations.
CARRIER: These dogs have one copy of the mutation and one normal copy of DNA. These dogs will not develop POMPE DISEASE themselves as a result of the POMPE DISEASE mutation but they will pass the mutation on to approximately 50% of their offspring. We cannot exclude the possibility that carriers might develop a similar condition due to other mutations they might carry that are not detected by this test.
GENETICALLY AFFECTED: These dogs have two copies of the POMPE DISEASE mutation and will almost certainly develop POMPE DISEASE during their lifetime.
Carriers can still be bred to clear dogs. On average, 50% of such a litter will be clear and 50% carriers; there can be no affected dogs produced from such a mating. Pups which will be used for breeding can themselves be DNA tested to determine whether they are clear or carrier of Pompe disease.
Tests should be ordered from our online webshop.
For more information please contact firstname.lastname@example.org and we’ll be happy to deal with your enquiry.
A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds
Eija H. Seppälä, Arnold J. J. Reuser, Hannes Lohi PLOS One February 14, 2013 DOI: 10.1371/journal.pone.0056825