Lertrit P, Ruangvaravate N, Trongpanich Y, Imsumran A, Mungkornkarn C, Neungton N
Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
J Med Assoc Thai. 1999 Jan;82(1):59-64.
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease, characterized by bilateral optic atrophy predominantly in healthy young males. This disorder has shown to be associated with DNA mutation in mitochondrial genome of the patients. We report here a young man who came to the hospital with subacute visual loss in one eye, followed by the other eye within two months. His echocardiogram was normal. A G-->A base substitution at nucleotide position 11,778 which changes a conserved arginine to histidine at amino acid position 340 of ND4, a protein subunit of respiratory chain enzyme complex I in oxidative phosphorylation system, was detected in his leucocyte mitochondrial genome.
莱伯遗传性视神经病变（LHON）是一种母系遗传疾病，主要特征为双侧视神经萎缩，多见于健康年轻男性。已证实这种疾病与患者线粒体基因组中的DNA突变有关。我们在此报告一名年轻男性，他因一只眼睛亚急性视力丧失前来就医，两个月内另一只眼睛也出现同样症状。他的超声心动图检查结果正常。在他白细胞线粒体基因组中检测到核苷酸位置11778处发生了G→A碱基替换，该替换导致氧化磷酸化系统中呼吸链酶复合体I的蛋白质亚基ND4的第340位氨基酸处一个保守的精氨酸被组氨酸取代。
