PDP1 test for Clumber and Sussex Spaniels

Exercise intolerance syndromes are well known to be associated with inborn errors of metabolism affecting glycolysis (phosphorylase and phosphofructokinase deficiency) and fatty acid oxidation (palmitoyl carnitine transferase deficiency). A few years ago, Cameron et al. identified a canine model for profound exercise intolerance caused by a deficit in PDP1, the phosphatase enzyme that activates the pyruvate dehydrogenase complex (PDHc). The mutation is present in 20% of the dogs in Clumber and Sussex Spaniel breeds. Homozygosity for the mutation produces severe exercise intolerance.

Genoscoper offers now the gene test to help to fight against the disease in the breed while maintaining the critical gene pool as diverse as possible.

The test result will be reported as follows:

NORMAL: The dog carries two copies of the normal PDP1 gene and has therefore no increased risk of getting the disease.

CARRIER: The dog carries one mutant and one normal copy of the PDP1 gene and do not develop the disease but can transfer the defect to approximately 50% of its offsprings.

AFFECTED: The dog carries two mutant copies of the PDP1 gene and will develop the disease.

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References:

Cameron,J.M., Maj,M.C., Levandovskiy,V., MacKay,N., Shelton,G.D., Robinson,B.H. (2007) Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Molecular Genetics and Metabolism 90 15-23.

Abramson,C.J., Platt,S.R. and Shelton,G.D. (2004) Pyruvate dehydrogenase deficiency in a Sussex spaniel. Journal of Small Animal Practice 45 162-165.