Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple sclerosis?
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple sclerosis?
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乙二醛酶 I A111E、对氧磷酶 1 Q192R 和 L55M 多态性：多发性硬化症的易感因素？
DOI：
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发表时间：
2007
期刊：
影响因子：
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通讯作者：
A. Amato
中科院分区：
文献类型：
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作者：
A. Sidoti;C. Antognelli;C. Rinaldi;R. D’Angelo;V. Dattola;P. Girlanda;V. Talesa;A. Amato
多发性硬化症(MS)的特征是慢性炎症和中枢神经系统(CNS)脱髓鞘。越来越多的数据表明，氧化应激，导致中枢神经系统神经元中活性氧物种(ROS)的产生和脂质过氧化，以及晚期糖基化终产物(AGE)水平的升高，可能在许多神经退行性疾病(如MS)的发病机制中发挥关键作用。因此，编码内源性自由基清除系统的基因(如对氧磷酶1(PON1))和抗糖基化防御(如乙草酸酶I(GI))的基因多态性可能影响MS的易感性。在本研究中，我们进行了一项病例对照研究，以探讨GI A111E与MS的可能关联。采用聚合酶链式反应/限制性片段长度多态性方法，对209例复发-缓解期MS(RRMS)患者和213例健康对照的PON1、Q192R和L55M基因多态性进行分析。我们发现，携带GI/AE-EE和PON55/LM-MM等位基因的个体患MS的风险显著高于其他基因型。这两个多态似乎是与多发性硬化症风险增加相关的常见遗传特征--在每一个单独的案例中，对两者的分析都可能是多发性硬化症风险的一个揭示的可预测因素。多发性硬化症2007；13：446-453。Http://msj.sagepub.com
Multiple sclerosis (MS) is characterized by chronic inflammation and demyelination of the central nervous system (CNS). Accumulating data indicate that oxidative stress, leading to reactive oxygen species (ROS) production and lipid peroxidation, as well as elevated levels of advanced glycation end products (AGE) in CNS neurons, might play a pivotal role in the pathogenesis of a number of diseases with a neurodegenerative aspect, such as MS. Therefore, polymorphisms of genes encoding endogenous free-radical scavenging systems, such as paraoxonase 1 (PON1), and anti-glycation defences, such as glyoxalase I (GI), could influence susceptibility to MS. In the present study, we have undertaken a case-control study to investigate the possible association of GI A111E, PON1 Q192R and L55M polymorphisms with the risk of MS. The three polymorphisms were characterized in 209 patients with relapsing-remitting MS (RRMS) and in 213 healthy controls by PCR/RFLP methods using DNA from lymphocytes. We found that individuals with the GI/AE-EE genotypes and PON55/LM-MM genotypes had a significantly higher risk of MS compared with the other genotypes. The two polymorphisms appear to be common genetic traits that are associated with an increased risk for MS - the analysis of both, in each single case, may be a revealing predictable factor for MS risk. Multiple Sclerosis 2007; 13: 446-453. http://msj.sagepub.com
乙二醛酶 I 对 4,5-二氧戊酸代谢的影响。
DOI：
10.1016/0304-4165(85)90036-4
发表时间：
1985
期刊：
Biochimica et biophysica acta
影响因子：
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作者：
Stafforini,DM;Kushner,JP;Burnham,BF
通讯作者：
Burnham,BF