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Catalase Deficiency (Beagle Type)

Catalase Deficiency (Beagle Type)

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Test Overview:

Catalase deficiency is an inherited disease affecting dogs. Catalase is a protein which plays an important role in a variety of metabolic reactions in the body including those involved in the prevention of cellular oxidative damage. Dogs affected with catalase deficiency lack adequate amounts of this protein in red blood cells. Though many dogs with this condition do not show clinical signs of disease, affected dogs are at increased risk of life-threatening ulceration and gangrene (tissue death due to loss of blood supply) of the oral cavity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

CAT on Chromosome 18

Variant Detected:

chr18:33397548 (canFam3): G/A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth

Research Citation(s):

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 Apr 30;14(4):e1007361. doi: 10.1371/journal.pgen.1007361. [PubMed: 29708978] 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 Nov-Dec;32(11-12):1183-93. [PubMed: 11137458] 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 Jan;32(1):89-98. [PubMed: 10661897]

Associated Breed(s):

American Foxhound, Beagle, Mixed Breed,

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