Enzyme catalase seems to be the main regulator of
hydrogen peroxide metabolism.
Hydrogen peroxide at high concentrations is a toxic agent, while at low concentrations it appears to modulate some physiological processes such as signaling in cell proliferation, apoptosis, carbohydrate metabolism, and platelet activation. Benign
catalase gene mutations of 5' noncoding region (15) and intron 1 (4) have no effect on
catalase activity and are not associated with disease.
Catalase gene mutations have been detected in association with
diabetes mellitus,
hypertension, and
vitiligo. Decreases in
catalase activity in patients with
tumors is more likely to be due to decreased
enzyme synthesis rather than to
catalase mutations.Acatalasemia, the inherited deficiency of
catalase has been detected in 11 countries. Its clinical features might be
oral gangrene, altered
lipid,
carbohydrate,
homocysteine metabolism and the increased risk of
diabetes mellitus. The Japanese, Swiss, and Hungarian types of
acatalasemia display differences in biochemical and genetic aspects. However, there are only limited reports on the syndrome causing these mutations. These data show that
acatalasemia may be a syndrome with clinical, biochemical, genetic characteristics rather than just a simple
enzyme deficiency.