Nishimura M, Obayashi H, Ohta M, Uchiyama T, Hao Q, Saida T
Department of Neurology, Utano National Hospital, Kyoto Microbiological Institute, Japan.
Neurology. 1995 Jul;45(7):1333-4. doi: 10.1212/wnl.45.7.1333.
Leber's hereditary optic neuropathy (LHON), a maternally inherited disease causing severe bilateral visual loss in young men, is linked to 12 point mutations in mitochondrial DNA, the most common of which is at the nucleotide position 11778. The 11778 point mutation has also been detected in several patients with possible multiple sclerosis (MS), especially women with severe visual loss in both eyes. Because frequent and severe optic neuropathy is a feature of MS in Japan, we screened 80 Japanese MS patients for the presence of the 11778 mutation by mutation-specific polymerase chain reaction. Eighteen women with MS had bilateral optic neuropathy, but none had the mutation at 11778. There is no association between Japanese MS and the 11778 mitochondrial DNA mutation.
莱伯遗传性视神经病变（LHON）是一种由母亲遗传的疾病，可导致年轻男性严重的双侧视力丧失，它与线粒体DNA中的12个点突变有关，其中最常见的位于核苷酸位置11778。在一些可能患有多发性硬化症（MS）的患者中也检测到了11778点突变，尤其是双眼严重视力丧失的女性。由于频繁且严重的视神经病变是日本MS患者的一个特征，我们通过突变特异性聚合酶链反应对80名日本MS患者进行了11778突变检测。18名患有MS的女性有双侧视神经病变，但均无11778突变。日本MS与11778线粒体DNA突变之间没有关联。
