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线粒体是“细胞的能量工厂”,目前发现许多常见眼病与线粒体DNA(mtDNA)突变和/或线粒体功能异常有关.引起眼病的新的mtDNA致病性突变位点不断被发现,这些突变通常影响视神经、视网膜和眼外肌.另一方面,人们逐渐意识到许多常见眼病与线粒体的功能异常密切相关,包括糖尿病视网膜病变、年龄相关性黄斑变性(AMD)和青光眼等.随着个体化基因组医学时代的到来,一些充满前景的有效治疗手段正逐渐从实验走向临床,如神经保护药物分子、基因替代和基于干细胞的再生疗法等.此外,通过体外受精线粒体替代技术可以阻止致病性的mtDNA突变从亲代传给子代.本文从发病机制和治疗等方面就线粒体相关眼病的研究进展进行综述.“,”Mitochondria are recognized to function as the powerhouse of the cell.The etiology of many common ocular disorders is increasingly recognized to involve either an accumulation of mitochondrial DNA (mtDNA) mutations and/or secondary mitochondrial damage.Novel pathogenic mtDNA mutations continue to be detected for primary mitochondrial ophthalmologic disorders that commonly affect the optic nerve,retina,and extraocular muscles.Mitochondrial dysfunction is also increasingly implicated in common ophthalmologic disorders,including diabetic retinopathy,age-related macular degeneration (AMD),and glaucoma.As the promise of personalized genomic medicine is becoming a reality,effective therapies for mitochondrial disorders are beginning to translate from bench to bedside along the paths of neuroprotection,gene replacement and stem cell-based regenerative paradigms.Additionally,preventing the transmission of pathogenic mtDNA mutations from mother to child is now a reality with in vitro fertilization mitochondrial replacement techniques.