LeberTheodor Leber的的名字命名的。名字命名的。Leber T Leber T 医生医生?Maternal inheritance?Mutation occurs in mitochondrial DNA (mtDNA)?Only the eggcontributes mtDNA to the embryoHypotheticalexample of LHON pedigreeLHON (Leber’s hereditary optic neuropathy)- A disease in which defects in the mitochondria’s electron transport chain lead to optic nerve degeneration and blindness. - Mutation in the NADH dehydrogenase subunit 4 gene.ics, from Genes to Genomes, Hartwell et al., 2nd edition.近年来研究表明LHON与线粒体DNA (mtDNA)突变有关?主要突变类型:ic Testing is now WIDELY accepted as diagnosis for LHON11778位点突变是LHON与mtDNA突变有关的第一个证据也是LHON中最常见的原发突变位点11778G11778G→→AA导致编码导致编码NADHNADH脱氢酶亚单位脱氢酶亚单位4(ND4)4(ND4)中第中第340340位的位的ArgArg→→HisHis,,从而影响线粒体能量的产生。从而影响线粒体能量的产生。不同种族突变类型各异欧洲国家:11778位点突变者约50%~70% , 3460位点突变者约15%
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