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New dwarfism mutation identified in dogs
Date:9/26/2013

he growth disturbances", explains Professor Lohi, and continues: "Several collagen mutations have been previously found in different growth disorders but this is only the second collagen receptor that has been linked to inherited chondrodysplasia. Our canine disease model offers new possibilities to study growth plate biology".

The results of the study may have implications to human medicine as well. "Humans also suffer from different types of inherited chondrodysplasia, and the ITGA10 gene could represent a good candidate gene for some of these disorders, which still have an unknown genetic cause", tells Kaisa Kystil, the first author of the paper. "We have already begun screening human patients for mutations in the gene", she adds.

A gene test recognizes mutation carrier dogs

The studied canine chondrodysplasia was initially described in Norwegian Elkhounds in the 1980's, and the current study identifies a corresponding problem in Karelian Bear Dogs. "Both breeds have now benefited from a genetic test that is available for dog owners", tells Professor Lohi. "The test is used to recognize mutation carriers, and the long-term aim is to eradicate the mutation and the disease from the dog breeds", he concludes.


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Contact: Hannes Lohi
hannes.lohi@helsinki.fi
358-919-25085
University of Helsinki
Source:Eurekalert

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