MITOCHONDRIAL MYOPATHIES - CLINICAL AND BIOCHEMICAL FEATURES OF 30 PATIENTS WITH MAJOR DELETIONS OF MUSCLE MITOCHONDRIAL-DNA
MITOCHONDRIAL MYOPATHIES - CLINICAL AND BIOCHEMICAL FEATURES OF 30 PATIENTS WITH MAJOR DELETIONS OF MUSCLE MITOCHONDRIAL-DNA
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DOI：
10.1002/ana.410260603
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发表时间：
1989-12-01
影响因子：
11.2
通讯作者：
MORGANHUGHES, JA
中科院分区：
文献类型：
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作者：
HOLT, IJ;HARDING, AE;MORGANHUGHES, JA
对72例线粒体肌病患者的肌肉和血液中的线粒体DNA（mtDNA）进行分析，结果显示30例患者的肌肉mtDNA有不同比例的主要缺失。这30例患者均表现为进行性眼外肌麻痹和肢体无力，8例具有Kearns-Sayre综合征的其他特征。在42名没有检测到肌肉mtDNA缺失的患者中，109名患者患有进行性眼外肌麻痹和肢体无力，2名患者患有Kearns-Sayre综合征，11名患者患有无眼外受累的肢体无力，19名患者患有主要影响中枢神经系统的多系统疾病。只有2例mtDNA缺失患者有临床受累亲属，而10例无缺失患者有临床受累亲属。在4例仅涉及复合物I（NADH辅酶Q还原酶）的极谱缺陷患者中，缺失的蛋白质编码基因仅限于复合物I亚基。其他13例明显相同的缺失患者有不同的临床和生化特征。免疫印迹复合物I多肽从患者与删除是无法区分的控制或仅显示出轻微的普遍减少，在所有可识别的亚基。
Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Kearns-Sayre syndrome. Of the 42 patients without detectable muscle mtDNA deletions, 109 had progressive external ophthalmoplegia and limb weakness, 2 had the Kearns-Sayre syndrome, 11 had limb weakness without extraocular involvement, and 19 had multisystem disorders predominantly affecting the central nervous system. Only 2 patients with mtDNA deletions had clinically affected relatives, compared with 10 of those without deletions. In the 4 patients with polarographic defects exclusively involving complex I (NADH coenzyme Q reductase), the deleted protein-coding genes were confined to those for complex I subunits. Thirteen other patients with apparently identical deletions had variable clinical and biochemical features. Immunoblots of complex I polypeptides from patients with deletions were either indistinguishable from controls or showed only a mild generalized decrease in all identifiable subunits.