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001-es BibID:BIBFORM042789
Első szerző:Góth László (analitikus)
Cím:Catalase enzyme mutations and their association with diseases / László Góth, Péter Rass, Anikó Páy
Dátum:2004
Megjegyzések:Enzyme catalase seems to be the main regulator of hydrogen peroxide metabolism. Hydrogen peroxide at high concentration 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 diseases. Catalase gene mutations have been detected in association with diabetes mellitus, hypertension, and vitiligo. Decrease in catalase activity in patients with tumors is more likely to be due 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 acatalasemia display differences in biochemical and genetic aspects. However, there are only limited reports on the syndrome causing mutations.These data show that acatalasemia may be a syndrome with clinical, biochemical, genetic characteristics rather than just a simple enzyme defect.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
hidrogén-peroxid a humán szövetekben
kataláz enzim
acatalasemia
kataláz mutációk
Megjelenés:Molecular Diagnosis. - 8 : 3 (2004), p. 141-149. -
További szerzők:Rass Péter Páy Anikó
Pályázati támogatás:MTA Zsigmond Diabetes Alapítvány
Egyéb
T O42985
OTKA
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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