老年黄斑变性线粒体DNA缺失的初步研究

Preliminary Study of Mitochondrial DNA Deletions in Age-related Macular Degeneration

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;

Purposes: To investigate mitochondrial DNA mutation associated with oxidative phosphorylation defect due to aging and to inspect it whether to play a role in the pathogenesis of age-related macular degeneration(ARMD). Methods :Using polymerase chain reaction (PCR) analysis, the mitochondrial DNA deletions were detected on blood samples in 20 patients with age-related macular degeneration (ARMD) and in 10 controls. Results:The abonrmal mtDNA fragments in blood cells were amplified on 6 cases of wet ARMD that indicated there might be three types of mtDNA deletions between positions 7901 and 13650. The sizes of mtDNA deletions were 3. 67kb, 5.0kb and 5.2kb respectively. No abnormal mtDNA fragments were amplified on 10 cases.in control. Conclusions : It suggests that there were multiple mitochondrial DNA deletions on the bleed cells of ARMD, including an aging-associated 5. 0kb deletion and it requires further studies on relationship between the mitochondrial DNA mutation and the etiology of ARMD. Eye science 1997; 13:52-55.