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目的:研究与衰老和氧化磷酸化功能缺陷有关的细胞线粒体DNA(mtDNA)突变,从基因水平探讨老年黄斑变性(ARMD)的发病机理。方法:应用聚合酶链反应(PCR)对20例老年黄斑变性(ARMD)病人之血细胞线粒体DNA(mtDNA)缺失进行了初步研究。结果:有6例湿性ARMD扩增出2条异常DNA片段,提示在mtDNA位点7901～13650之间存在有2种mtDNA缺失,其缺失片段大小分别为5.0kb和5.2kb。另有5例湿性ARMD扩增出1条1.2kb的异常片段,提示在mtDNA位点8531～13400之间还存在1种长度为3.67kb的缺失片段,10例对照均未扩增出异常mtDNA片段。结论:提示在湿性ARMD病人血细胞mtDNA存在有包括与年龄相关的长度为5.0kb在内的多重缺失,mtDNA突变与ARMD发病机制的关系还需进一步深入研究。眼科学报 1997;13:52
OBJECTIVE: To study the mitochondrial DNA (mtDNA) mutations associated with defects in aging and oxidative phosphorylation and to explore the pathogenesis of age-related macular degeneration (ARMD) at the gene level. Methods: The mitochondrial DNA (mtDNA) deletion in 20 cases of patients with age - related macular degeneration (ARMD) was studied by polymerase chain reaction (PCR). Results: Two abnormal DNA fragments were amplified in 6 cases of wet ARMD, which indicated that there were 2 kinds of mtDNA deletions between 7901 and 13650 in mtDNA, and the deletion fragments were 5.0kb and 5.2kb respectively. Another 5 cases of wet ARMD amplified a 1.2kb abnormal fragment, suggesting that in the mtDNA site 8531 ~ 13400 there is also a length of 3.67kb deletion fragment, 10 cases of control were not amplified abnormal mtDNA fragments . Conclusion: The mtDNA of blood cells in patients with wet ARMD have multiple deletions, including the age-related length of 5.0kb. The relationship between mtDNA mutations and the pathogenesis of ARMD needs to be further studied. Journal of Ophthalmology 1997; 13: 52