Oncology Institute of Vojvodina, Diagnostic Imaging Center, Sremska Kamenica, Sremska Kamenica, Serbia.
Acta Neurol Belg. 2009 Dec;109(4):305-9.
This study was conducted in order to test the hypothesis that proton MR spectroscopic (1H MRS) profile of Leber's hereditary optic neuropathy (LHON) mutation carriers group (including both symptomatic and asymptomatic) differs from group of healthy individuals and to determine metabolite or ratio that contributes most to differentiation.
We performed single voxel 1H MRS in normal appearing white matter of eighteen LHON mtDNA mutation carriers bearing one of three LHON mtDNA point mutations and in fifty control subjects.
ANOVA showed significant difference for absolute concentration of creatine (Cr) (p < 0.01) and N-acetylaspartate to creatine ratio (NAA/Cr) (p < 0.01). Discriminant analysis revealed that decreased absolute Cr followed by decreased absolute NAA concentration have the most significant contribution in discriminating LHON mutation carriers from healthy controls.
Abnormal metabolic profile in normal appearing white matter on MR imaging seems to be significantly present in LHON mutation carriers.
本研究旨在验证以下假设，即莱伯遗传性视神经病变（LHON）突变携带者组（包括有症状和无症状者）的质子磁共振波谱（1H MRS）图谱与健康组不同，并确定对区分最有贡献的代谢物或比值。
我们对 18 名携带三种 LHON mtDNA 点突变之一的 LHON mtDNA 突变携带者的正常外观白质进行了单体素 1H MRS，并与 50 名对照者进行了比较。
方差分析显示肌酸（Cr）的绝对浓度（Cr）（p < 0.01）和 N-乙酰天门冬氨酸与 Cr 比值（NAA/Cr）（p < 0.01）存在显著差异。判别分析表明，Cr 绝对浓度降低后，NAA 浓度绝对降低对区分 LHON 突变携带者和健康对照者具有最重要的贡献。
磁共振成像上正常外观白质的异常代谢谱似乎在 LHON 突变携带者中明显存在。
