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首页> 外文期刊>Mutation Research. Reviews in Mutation Research >Inherited catalase deficiency: Is it benign or a factor in various age related disorders?
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Inherited catalase deficiency: Is it benign or a factor in various age related disorders?

机译：遗传的过敏酶缺乏：是各种相关疾病的良性还是因素？

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Hydrogen peroxide was - and is still - considered toxic for a wide range of living organisms. Oxidative stress occurs when there is an excess of pro-oxidants over antioxidants and it has been implicated in several diseases. Catalase is involved in hydrogen peroxide catabolism and is important in defense against oxidative stress. Acatalasemia means the inherited near-total deficiency of catalase activity, usually in reference to red cell catalase. Acatalasemia was thought at first to be an asymptotic disorder. In the absence of catalase, neither the Japanese, or Hungarian acatalasemics nor acatalasemic mice had significantly increased blood glutathione peroxidase activity. In animal models, catalase deficient tissues show much slower rates of removal of extracellular hydrogen peroxide. In catalase knock-out mice, a decreased hydrogen peroxide removing capacity and increased reactive oxygen species formation were reported. Hydrogen peroxide may cause methemoglobinemia in patients with catalase deficiency. During anesthesia for a Japanese acatalasemic patient the disinfection with hydrogen peroxide solution caused severe methemoglobinemia. Patients with inherited catalase deficiency, who are treated with uric acid oxidase (rasburicase) may experience very high concentrations of hydrogen peroxide and may suffer from methemoglobinemia and hemolysis. The high (18.5%) prevalence of diabetes mellitus in inherited catalase deficient individuals and the earlier (10 years) manifestation of the disease may be attributed to the oxidative damage of oxidant sensitive, insulin producing pancreatic beta-cells. Ninety-seven of 114 acatalasemics had diseases related to oxidative stress and aging. The oxidative stress due to catalase deficiency could contribute to the manifestation of diabetes while for the other diseases it may be one of the factors in their causations. In summary, inherited catalase deficiency is associated with clinical features, pathologic laboratory test results, age and oxidative stress related disorders. Rather than considering it a benign condition, it should be considered as a complicating condition for aging and oxidative stress.
机译：过氧化氢是 - 并且仍然是毒性的广泛的生物体。当抗氧化剂上过量的促氧化剂时，发生氧化应激，并且它涉及几种疾病。过氧化氢酶参与过氧化氢分解代谢，在防御氧化应激方面是重要的。 AcataLaseMia意味着遗传近乎全总缺乏过氧化氢酶活性，通常是参考红细胞过缩酶。阿巴妥血症一开始是一种渐近障碍。在没有过氧化酯酶的情况下，日本或匈牙利的丙酸碱或髋关节症小鼠都没有显着增加血谷胱甘肽过氧化物酶活性。在动物模型中，过氧化氢酶缺陷组织显示出多余的过氧化氢除去的速度较慢。在过氧化氢酶敲除小鼠中，报道了减少过氧化氢除去能力和增加的反应性氧物质形成。过氧化氢可能导致过氧化氢酶缺乏的患者甲虫血红蛋白血症。在麻醉期间，用于日本的AcataLAsemed患者与过氧化氢溶液的消毒引起严重的甲基喹啉症。患有尿酸氧化酶（RasbuRicase）治疗的遗传酶缺乏的患者可能经历非常高浓度的过氧化氢，并且可能存在甲虫血症和溶血。糖尿病患者的高（18.5％）患者在遗传过氧化氢酶缺陷型患者中和早期（10年）的疾病的表现可能归因于氧化剂敏感性胰岛素的胰腺β细胞的氧化损伤。 114例Acatalasemics中的九十七种与氧化应激和衰老有关的疾病。由于过氧化酯酶缺乏引起的氧化应激可能导致糖尿病的表现，而对于其他疾病，它可能是其原因中的因素之一。总之，遗传算量缺乏与临床特征，病理实验室测试结果，年龄和氧化应激相关疾病有关。而不是考虑到良性条件，应该被认为是老化和氧化应激的复杂条件。

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