In Both Humans And Dogs, The Same Genetic Defect Causes Pompe Disease

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid ?-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, canine Pompe disease can now be diagnosed with a genetic test.

This research was completed at the Canine Genetics Research Group lead by professor Hannes Lohi in the University of Helsinki and Folkhälsan Research Center in Finland and was published in PLOS ONE.

Human Pompe disease is caused by complete or partial deficiency of the acidic ?-glucosidase enzyme. In humans, over 300 mutations have been discovered in the gene encoding this enzyme. Pompe disease is recessively inherited, therefore requiring the inheritance of the defected gene from both father and mother. Typically, human patients have two different mutations; one is inherited from father and the other from mother. If both mutations cause severe defect to the enzyme, the enzymatic activity is completely lost. This leads to infantile onset Pompe disease...

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