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除mtDNA突变以外,LHON的突变基因的杂合性、临床表现的不完全外显性和明显的性别偏向等问题使其发病机制尚不明确,本研究拟了解LHON与氧化应激的关系,探索其进一步可能的发病机制和治疗。抽取有mtDNA*LHON G11778A突变的LHON患者7人、正常携带者10人及正常健康非母系家庭成员13人的外周血,用PHA(植物血凝素)作为细胞氧化应激的促发剂,运用化学发光法测定全血中氧自由基的变化。家系人群(包括病人和正常携带者)中全血氧自由基的变化在即时组要明显高于对照人群(P<0．05),而家系人群二组间、即时组及10min组间的变化差异不大(P>0．05)。在外界氧化应激刺激下,LHON家系人群组织或细胞中自由基/抗氧化物间的平衡状态更容易被打破,提示氧化应激在其发病机制中起重要作用。
In addition to mtDNA mutations, the LHON mutation gene heterozygosity, clinical manifestations of incomplete explicit and obvious gender bias and other issues make its pathogenesis is not clear, this study intended to understand the relationship between LHON and oxidative stress, to explore Its further possible pathogenesis and treatment. Peripheral blood samples from 7 LHON patients with mtDNA * LHON G11778A mutation, 10 normal carriers, and 13 healthy, non-maternal family members were drawn as PHA (Phytohemagglutinin) as a trigger for cellular oxidative stress Chemiluminescence Determination of Changes of Oxygen Free Radicals in Whole Blood. Changes in whole blood oxygen free radicals in the familial population (including patients and normal carriers) were significantly higher in the real-time group than in the control group (P <0.05), while those in the familial population between the two groups, immediate and 10 min Little difference (P> 0.05). Under the condition of oxidative stress, the balance of free radicals / antioxidants in LHON family members is more easily broken, suggesting that oxidative stress plays an important role in its pathogenesis.