Bosley Thomas M, Abu-Amero Khaled K
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ophthalmic Genet. 2010 Dec;31(4):163-72. doi: 10.3109/13816810.2010.514015.
The high mutation rate in the mitochondrial genome makes it difficult to be certain about mtDNA pathology, and yet we now recognize several primary and provisional Leber hereditary optic neuropathy (LHON) mutations (which are commonly pathologic) and a larger number of secondary LHON mutations (which are often associated with certain primary LHON mutations and may contribute to pathogenicity), haplogroup-specific mitochondrial DNA (mtDNA) sequence variants, and simple polymorphisms (which are not commonly pathologic).
An enormous amount of information is now known about mitochondria, the apparent dependence of the optic nerve on mitochondria, various metabolic effects of primary LHON mutations, and certain ways in which these nucleotide changes might harm the optic nerve are discussed.
线粒体基因组中的高突变率使得确定线粒体DNA（mtDNA）病理学变得困难，然而我们现在已经识别出几种主要的和暂定的Leber遗传性视神经病变（LHON）突变（通常具有致病性）以及大量继发性LHON突变（常与某些原发性LHON突变相关且可能导致致病性）、单倍型特异性线粒体DNA（mtDNA）序列变异和简单多态性（通常不具有致病性）。
目前关于线粒体、视神经对线粒体的明显依赖性、原发性LHON突变的各种代谢效应以及这些核苷酸变化可能损害视神经的某些方式，我们已经了解了大量信息。
