Mayorov Vladimir, Biousse Valerie, Newman Nancy J, Brown Michael D
Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, GA 31207, USA.
Ann Neurol. 2005 Nov;58(5):807-11. doi: 10.1002/ana.20669.
Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene, is not found in controls, and is heteroplasmic. Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON.
莱伯遗传性视神经病变（LHON）由双侧视神经病变导致中心视力丧失。虽然13种线粒体DNA（mtDNA）突变与LHON密切相关，但只有三种突变约占病例的90%，因此在多个独立的LHON家族中被发现。其余的LHON突变则较为罕见。在此，我们描述了一种新的LHON mtDNA突变的临床和遗传学特征。12848T突变改变了ND5复合物I基因中一个高度保守的氨基酸，在对照中未发现，且为异质性。尽管ND5是mtDNA复合物I基因中最大的基因，但ND5突变在LHON中相当罕见。
