Hypocatalasia / acatalasemia (CAT-related) - Dog

What does this test examine?

This genetic test analyses the CAT c.979G>A variant in dogs. The disorder is known as hypocatalasia, hypocatalasemia, acatalasia, acatalasemia, catalase deficiency or Takahara disease. CAT encodes catalase, an enzyme that breaks down hydrogen peroxide and helps protect cells from oxidative damage.

What does hypocatalasia mean?

Dogs with reduced catalase activity break down hydrogen peroxide less efficiently. Many animals may show few or no signs, but the deficiency can become important in the oral cavity because some bacteria produce hydrogen peroxide. Affected dogs can have increased risk of oral ulcers, inflammation, tissue damage, gangrene in the mouth and tooth loss.

Inheritance and result

This variant is interpreted with autosomal incomplete dominant inheritance. One copy can reduce catalase activity and is therefore not the same as being fully clear. Two copies give the strongest genetic risk and fit acatalasemia or more severe catalase deficiency. The result must therefore clearly distinguish clear, one-copy and two-copy outcomes.

Practical value of this test

The test is useful for breeders who want to monitor the CAT variant in a line and for owners who want insight into a possible inherited risk for oral problems. Because carriers or dogs with reduced catalase activity are not always outwardly recognisable, DNA testing makes the situation clear before breeding choices are made or recurrent mouth problems are misinterpreted.

Result in brief

• Clear: the tested CAT variant was not detected.
• One copy: catalase activity may be reduced and the variant can be passed on.
• Two copies: strongest genetic risk for acatalasemia or clear catalase deficiency.