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Leber遗传性视神经病变(LHON)是一种以母系遗传为特征的线粒体遗传病。它主要表现为双眼急性或亚急性中心视力下降,主要累及青年男性。几乎所有的LHON家系都与三种原发性线粒体DNA突变(mtDNA 11778、3460、14484)有关。原发性突变对于疾病的发展是必不可少的,但其它因素如继发性突变、X-连锁突变及环境因素对LHON的外显也起一定的作用。突变基因的异质性越来越受到重视,并且发现它与临床表现多样性有关。从生化角度看,三种原发性突变均可导致线粒体功能受损。具体的发病机制除了与能量代谢障碍有关,可能还与活性氧(reactive oxygen species,ROS)产生增多及视神经特殊的解剖特点有关。
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by maternal inheritance. It is mainly manifested as binocular acute or subacute center of vision loss, mainly involving young men. Almost all LHON families are associated with three primary mitochondrial DNA mutations (mtDNA 11778, 3460, 14484). Primary mutations are essential for the development of the disease, but other factors such as secondary mutations, X-linked mutations and environmental factors also play a role in the LHON’s apparent. The heterogeneity of the mutant gene is getting more and more attention, and it is found that it is related to the diversity of clinical manifestations. From a biochemical point of view, all three primary mutations lead to impaired mitochondrial function. In addition to the specific pathogenesis of energy metabolism disorders, may also be associated with increased production of reactive oxygen species (ROS) and optic nerve special anatomical characteristics.