Leber遗传性视神经病的生化机制和基因治疗

Leber＇s hereditary optic neuropathy： biochemical mechanisms and gene therapy

Leber遗传性视神经病（LHON）是由于线粒体基因突变导致的母系遗传性致盲性疾病，青少年多见。LHON发病的生化机制有呼吸链复合酶I功能障碍、活性氧生成增多及细胞凋亡学说等。对LHON理想的治疗措施是基因治疗。目前基因治疗采用异位表达、转染缺陷基因及抗氧化基因等方法。但临床上基因治疗LHON的开展及远期疗效尚需更多的研究证据。

Leberg hereditary optic neuropathy （LHON）, a common blinding disease, is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA. Complex 1 dysfunction, reactive oxygen species （ROS） overproduction, and cell apoptosis are the hypothesis of biochemical mechanism in LHON. Gene therapy is the ideal treatment for the disease. So far, the gene therapies used include allotropic expressing, transfecting with wild gene, and transfecting with antioxidant gene and so on. However, further investigation has to be done before clinical trials. （lnt Rev Ophthalmol, 2012,36： 13-17）