Coton de Tuléar dog breed has been found to carry the gene that causes hyperoxaluria


<p>Coton de Tuléar dog breed has been found to carry a gene mutation that causes a lethal metabolic disease. The disease is called hyperoxaluria. The gene mutation was found at the Finnish Food Safety Authority Evira.</p>

Hyperoxaluria is caused by a defective alanine-glyoxylate aminotransferase (AGT) enzyme. Defective AGT enzyme activity causes oxalate to accumulate in the body. Oxalate crystallizing in the kidneys causes renal failure before the puppies reach the age when they leave for their new homes. The disease is inherited recessively and hence, both parents must be carriers of the defective gene in order for some of the puppies to develop the disease. If a puppy inherits the defective gene from both the mother and the father, which are themselves clinically healthy, it will develop the disease. This means that in litters from two carriers, an average of a fourth of the puppies will develop the disorder. In combinations of a carrier and a non-carrier, all of the puppies are healthy but a puppy has a 50 % chance of being a carrier of the disease.

Finding the gene defect has enabled the development of a gene test for this breed. It is easy to prevent the birth of sick puppies by not combining two carriers.

The occurrence of the disease gene among the Coton de Tuléar breed was 8 % in material (total 284 sampled dogs) collected in Finland in 2011. None of the dogs that were examined had two affected alleles.

The disease has previously been described in humans and in Tibetan Spaniels.

The study has been published in an international scientific journal:
Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. Primary hyperoxaluria in Coton de Tulear. Animal Genetics 2012: Vol. 43, No. 3, pp. 356-361.

We thank the dog owners for their wonderful cooperation.

For further information, please contact:
Professor Marjukka Anttila, Head of Unit, Pathology Research Unit
Tel. +358 (0)50 354 4601, firstname.lastname(at)

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