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The same genetic defect causes Pompe disease in both humans and dogs
Date:2/15/2013

all tissues. In Pompe disease, glycogen doesn't break down naturally and accumulation most severely affects tissue function of the muscles.

Fast discovery of the gene defect

"From previous studies we knew which enzyme is defective in human patients, so we had a clear candidate gene for our canine studies" states professor Hannes Lohi, the leader of the Canine Genetics Group.

Sequencing the gene from the Finnish Lapphund litter revealed a recessively inherited mutation. This mutation is the same as one of the known 300 mutations in humans. Affected dogs carried two copies of the mutation, the parents were carriers and healthy siblings were either carriers or free of the mutation.

"The effect of the mutation to the gene product is so severe, that although we only had two affected cases in our study, we are certain we have identified the causative mutation" assures the first author of the paper Dr. Eija Seppl.

The research was carried out in collaboration with Dr. Arnold Reuser who works in the Erasmus MC, Netherlands. With Dr. Reusers' help, a stored cell sample from an affected Swedish Lapphund born already in the 1970s was also tested. This dog was affected by the same mutation as the Finnish Lapphunds.

Finnish Lapphund, Swedish Lapphund and Lapponian Herder have common ancestors from the original reindeer-herding dog population. Therefore one aim was to discover the mutation frequency among current Lapphund and Lapponian Herder populations. A carrier frequency of 5% among Finnish Lapphunds and 2% among Lapponian Herders was revealed by testing approximately 100 dogs from both breeds. In addition, a total of 34 Swedish Lapphunds from Finland, Sweden and Norway were tested. All of these dogs were healthy and did not carry the mutation. It is possible that the sample size was too small for Swedish Lapphund breed and therefore carriers were not detected or it is possible that rigorous breeding program in the
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Contact: Hannes Lohi
hannes.lohi@helsinki.fi
358-919-125-085
University of Helsinki
Source:Eurekalert  

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The same genetic defect causes Pompe disease in both humans and dogs
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