Leber′s遗传性视神经病变(LHON)与自由基的相关性研究

The relationship between the levels of serum oxide and antioxide in patients with LHON and asymptomatic carriers of the 11778 mtDNA mutation

目的 研究LHON家系人群中自由基、抗氧化物的变化。方法 测定家系人群外周血血清中维生素E(VIT E)、谷胱甘肽 (GSH)、总超氧化物歧化酶 (SOD)、谷胱甘肽 -S转移酶 (GST )、丙二醛(MDA)的活性或浓度。结果 LHON家系 ,无论是病人还是正常携带者与正常对照组相比 ,血清SOD水平均显著增高 (P <0 0 5 ) ,同时 ,病人组GSH与正常对照组相比 ,明显高于后者 (P <0 0 1) ,而血清GST、GSH水平LHON正常携带者则低于正常对照组 (P <0 0 5 ,P <0 0 1)。维生素E、MDA在LHON病人、正常携带者与对照三组间无明显差异 (P >0 0 5 )。结论 LHON家系病人和正常携带者血清中存在着自由基系统的代谢紊乱 ,氧化应激可能是其发病的重要原因之一 ,但尚需进一步观察研究。

Objective To study the levels of serum oxide and antio xide in patients with LHON and asymptomatic carriers of the 11778 mtDNA mutation.Methods Use the sepectrophotometric methods to investigated the serum levels of NO MDA SOD GSH GST and VitE in 12 patients with LHON,17 asymptomatic carriers and 16 controls.Results The serum levels of SOD both in the LHON patients and asymptomatic carriers were significantly higher than those of controls(P<0.05),GSH in the patients were significantly higher than those of controls(P<0.01),while GST and GSH in the asymptomatic carriers were significantly lower than those of controls(P<0.01,P<0.05),however,there were no significant difference in the serum levels of MDA、VitE among the three groups.Conclusions There was metabolism disorder of free radicals in the LHON patients and asymptomatic carriers,and these data indicate that oxidant stress may play a role in disease penetrance and expression.