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Catalase Deficiency

Catalase Deficiency (CD) is a genetic disorder in dogs that impairs the enzyme catalase, increasing the risk of oral ulceration and gangrene.

Affected Genes: CAT

Inheritance: Autosomal Recessive With Incomplete Penetrance

Variant(canFam6):
chr18:33003304: C>T

Breed: American Foxhound
Beagle
Carolina Dog

General Information: Catalase Deficiency (CD) is an inherited metabolic disorder in dogs characterized by insufficient levels of the enzyme catalase in red blood cells, which is crucial for preventing cellular oxidative damage. This deficiency increases the risk of serious conditions such as ulceration and gangrene in the oral cavity, although many affected dogs may not exhibit any symptoms. The condition is most commonly found in breeds such as Beagles and American Foxhounds. Dogs with this deficiency are particularly vulnerable to the harmful effects of reactive oxygen species like hydrogen peroxide, which can lead to significant tissue damage if not properly managed. Early detection and monitoring are essential to manage potential complications and ensure the well-being of affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the CAT gene can indicate the presence of the variants for Catalase Deficiency (CD). This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.

References:
Donner J, Anderson H, Davison S, Hughes AM, Bouirmane J, Lindqvist J, Lytle KM, Ganesan B, Ottka C, Ruotanen P, Kaukonen M, Forman OP, Fretwell N, Cole CA, Lohi H. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet. 2018 14(4):e1007361.

Nakamura K, Watanabe M, Takanaka K, Sasaki Y, Ikeda T. cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme. Int J Biochem Cell Biol. 2000 32(11-12):1183-1193.

Nakamura K, Watanabe M, Takanaka K, Sasaki Y, Ikeda T. Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol. 2000 32(1):89-98.