Catalase enzyme mutations and their association with diseases

Abstract

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.

Genetic polymorphisms influence runners’ responses to the dietary ingestion of antioxidant supplementation based on pequi oil (Caryocar brasiliense Camb.): a before-after study

“…The CAT-21A/T polymorphism has not been associated with any alteration in catalase activity [51,79], but individuals carrying the variant T allele presented non-significant higher HDL and lower LDL levels, both before and after pequi-oil supplementation, indicating that this variant allele could be more protective. Although there were differences in the genotype frequencies between the sexes, for clinical purposes, the reference values of lipid profile are equal for men and women [46,67,137], not affecting the results.…”

Under Increased Hydrogen Peroxide conditions, the Antioxidant Effects of Pequi Oil (Caryocar brasiliense Camb.) to Decrease DNA Damage in Runners are Influenced by Sex, Age and oxidative Stress-related Genetic Polymorphisms

“…[52] Although no effects on catalase expression, catalase activity or association with disease/pathological changes have been reported, [53] results indicated that there are differences among CAT genotypes and more investigations are needed, mainly because pequi-oil significantly decreased DNA damage only in athletes carrying the TT genotype, which also presented no tolerance to increased oxidative stress imposed by H 2 O 2 at 0.25mM. Moreover, there was a significant interaction between subject's effects linking CAT and GSTT1, where, in presence of GSTT1 null genotype, extent of DNA damage depended on the presence or absence of the CAT variant allele.…”

Protection Against Oxidative Stress and “IGF-I Deficiency Conditions”

“…GPx are present both in the cytosol and in mitochondria [59]. There are at least eight GPx enzymes: GPx1-GPx8 [60,61].…”