title: Acatalasemia and diabetes mellitus.
abstract: The enzyme catalase catalyzes the breakdown of hydrogen peroxide into oxygen and water. It is the main regulator of hydrogen peroxide metabolism. Hydrogen peroxide is a highly reactive small molecule formed as a natural byproducts of energy metabolism. Excessive concentrations may cause significant damages to protein, DNA, RNA and lipids. Low levels in muscle cells, facilitate insulin signaling. Acatalasemia is a result of the homozygous mutations in the catalase gene, has a worldwide distribution with 12 known mutations. Increased hydrogen peroxide, due to catalase deficiency, plays a role in the pathogenesis of several diseases such as diabetes mellitus. Diabetes mellitus is a disorder caused by multiple genetic and environmental factors. Examination of Hungarian diabetic and acatalasemic patients showed that an increased frequency of catalase gene mutations exists among diabetes patients. Inherited catalase deficiency may increase the risk of type 2 diabetes mellitus, especially for females. Early onset of type 2 diabetes occurs with inherited catalase deficiency. Low levels of SOD and glutathione peroxidase could contribute to complications caused by increased oxidative stress.
authors.affiliation: Department of Medical Laboratory Analytics, Medical and Health Science Center, University of Debrecen, P.O. Box 55, Debrecen H-4012, Hungary. goth@dote.hu
authors.forename: László
authors.initials: L
authors.lastname: Góth
authors.forename: Teréz
authors.initials: T
authors.lastname: Nagy
mesh_terms: D020642:Acatalasia / Q000150:complications / Q000235:genetics*; D048909:Diabetes Complications / Q000378:metabolism; D003920:Diabetes Mellitus / Q000201:enzymology* / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000378:metabolism; D005091:Exons; D005260:Female; D005979:Glutathione Peroxidase / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D006861:Hydrogen Peroxide / Q000737:chemistry; D007328:Insulin / Q000378:metabolism; D008297:Male; D009154:Mutation; D018384:Oxidative Stress; D010100:Oxygen / Q000737:chemistry; D017382:Reactive Oxygen Species; D012306:Risk; D012737:Sex Factors; D015398:Signal Transduction; D013482:Superoxide Dismutase / Q000378:metabolism
chemical_list: D007328:Insulin; D017382:Reactive Oxygen Species; D006861:Hydrogen Peroxide; D005979:Glutathione Peroxidase; D013482:Superoxide Dismutase; D010100:Oxygen