Tanno Y, Yoneda M, Ohnishi Y, Miyatake T, Ozawa T
Rinsho Shinkeigaku. 1989 Sep;29(9):1176-9.
A 19-year-old man with chronic progressive external ophthalmoplegia with deleted mitochondrial DNA was reported. Neurological examination revealed bilateral external ophthalmoplegia, hearing loss of sensorineural type, short stature, mental retardation, muscle atrophy and weakness in the proximal muscles. Lactate and pyruvate levels were elevated in both serum and cerebrospinal fluid (CSF). Protein concentration was slightly increased in CSF. Electromyogram showed myopathic changes on all the muscles examined. Ragged-red fibers were found in biopsied rectus femoris muscle, stained with modified Gomori trichrome. Scattered cytochrome c oxidase deficient fibers were encountered. The computed tomography of the brain showed mild cerebral and cerebellar atrophy without any abnormal calcification or hypo-lucency. Southern blot analysis of the mitochondrial DNA (mtDNA) extracted from the patient's muscle revealed mixed population of mtDNA, consisting of the normal one and partially deleted one. The size of the deletion was about 4.5-kilobase. The region included the sequences coding for at least four subunits of Complex I, one subunit of Complex IV, two subunits of Complex V and five tRNAs. There may be a "hot area" on the mitochondrial genome that is more prone to be deleted than other regions of mtDNA. Southern blot analysis is usefull for the diagnosis of KSS or CPEO.
报道了一名19岁患有线粒体DNA缺失的慢性进行性眼外肌麻痹的男性患者。神经系统检查发现双侧眼外肌麻痹、感音神经性听力丧失、身材矮小、智力发育迟缓、肌肉萎缩以及近端肌肉无力。血清和脑脊液（CSF）中的乳酸和丙酮酸水平均升高。脑脊液中的蛋白质浓度略有升高。肌电图显示所有检查的肌肉均有肌病性改变。在经改良Gomori三色染色的股直肌活检标本中发现了破碎红纤维。还发现了散在的细胞色素c氧化酶缺陷纤维。脑部计算机断层扫描显示轻度脑和小脑萎缩，无任何异常钙化或低密度影。对从患者肌肉中提取的线粒体DNA（mtDNA）进行Southern印迹分析，结果显示mtDNA为混合群体，由正常mtDNA和部分缺失的mtDNA组成。缺失片段大小约为4.5千碱基。该区域包含编码复合体I至少四个亚基、复合体IV一个亚基、复合体V两个亚基和五个tRNA的序列。线粒体基因组上可能存在一个“热点区域”，比mtDNA的其他区域更容易发生缺失。Southern印迹分析对KSS或CPEO的诊断有用。
