Leber遗传性视神经萎缩病外显率的影响因素研究进展

摘要

Abstract• Leber’s hereditary optic neuropathy ( LHON ) is a maternally inherited blinding disease. The clinical phenotype of LHON is the degeneration of retinal ganglion cells ( RGCs) and a progressive degeneration of the optic nerve. Three common mutations, G11778A, T14484C and G3460A are responsible for over 90% of cases. Differences in penetrance indicate the additional modifier genes influencing penetrance of the mitochondrial DNA mutation for LHON patients. Different types of mitochondrial haplogroups, environmental factors also have different effects on the penetrance of the mitochondrial DNA mutations. ln the present paper, here the progress of the factors influencing the penetrance of Leber’s hereditary optic neuropathy will be summarized.%Leber 遗传性视神经萎缩病( Leber’s Hereditary Optic Neuropathy, LHON)的发生是由于视网膜神经节细胞死亡进而导致视神经萎缩,表现为急性或亚急性双眼视力下降,是目前研究最为广泛的由线粒体基因突变引起的母系遗传病之一。超过90%的LHON是由线粒体基因组的3个原发致病突变之一所致,即 G11778 A、T14484 C 和G3460 A。 LHON临床表型不同,外显率的不同以及发病率的性别差异都提示可能存在其他相关基因(核基因和线粒体基因组)在其发挥着重要作用。本文主要对近二十年来该病的分子遗传学,特别是可能的外显率影响因素的研究进展作一阐述,为该病预防与临床治疗提供参考。