慢性进行性眼外肌麻痹发病机制探讨

A STUDY OF PATHOGENESIS ON CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

①目的 探讨慢性进行性眼外肌麻痹 (CPEO)发病的分子机制。②方法 采用聚合酶链反应 (PCR)、PCR 限制性片段长度多态性 (PCR RFLP)技术以及PCR 单链构象多态性 (PCR SSCP)技术 ,对 4例CPEO病人和 10例非CPEO病人受累眼外肌线粒体DNA(mtDNA)的 84 83～ 1345 9碱基部位的缺失突变、tRNA(Leu)基因A32 4 3G位点的点突变以及tRNA(Leu)基因其他位点的突变情况进行检测分析。③结果 在 1例CPEO病人眼外肌标本中检测到mtDNA的 84 83～ 1345 9碱基部位的缺失突变 ;未检测出A32 4 3G点突变及mtDNAtRNA(Leu)基因的其他点突变。④结论 mtDNA的 84 83～ 1345 9碱基部位缺失突变可能与CPEO的发病有关。

Objective\ To study mitochondrial DNA(mtDNA) mutations in chronic progressive external ophthalmoplegia(CPEO) and explore the genetic pathogenesis of the disease.\ Methods\ The mtDNA deletion mutation, tRNA(Leu) gene A3243G point mutation and other point mutations in tRNA(Leu) gene in the affected extra ocular muscles of 4 CPEO patients and 10 ocular disease (except CPEO) patients were detected by polymerase chain reaction(PCR), PCR combined with restricted fragment length polymorphism(PCR RFLP) and PCR combined single strand conformation polymorphism(PCR SSCP), respectively. Results\ The mtDNA deletion mutation was found in one CPEO patients extra ocular muscle. The tRNA(Leu) gene A3243G point mutation and other point mutations in tRNA(Leu) gene were not found in all the patients with or without CPEO. \ Conclusion\ The deletion mutation of mitochondrial DNA might be related to the pathogenesis of CPEO.