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在文章中,描述了2例患有新格斯样综合征的同胞兄弟,他们的症状有先天肥厚性心肌病、婴儿性白内障、线粒性肌病、乳酸血症,但智力发育正常。使用免疫印迹法检验,在患者的肌肉样本中发现了线粒体腺嘌呤核苷转录体1(ANT1),而没有发现ANT1蛋白。除了这些典型新格斯样综合征(OMIM 212350)的特点外,还发现, 通过生物化学分析测量得到的线粒体氧化磷酸化反应, 在2个兄弟的骨骼肌中都明显减少,而纤维原细胞的生物化学和形态学分析结果都显示正常。在这些患者的肌肉样本中,新发现丙酮酸盐氧化率降低、能量生产不足及多样性线粒体酶复合反应活动显著相关,并且这些发现与先前的新格斯样综合征患者的结果不一样。结论: 建议对患有肌张力减退、心肌病、先天性或婴儿白内障的患者的氧化磷酸化反应体系作一个肌肉活组织检查和生物化学分析。
In the article, two siblings with nemesis syndrome were described. Their symptoms are congenital hypertrophic cardiomyopathy, infantile cataract, myogenic myopathy, and lactic acidosis, but their mental development is normal. Using immunoblotting, mitochondrial adenine nucleoside transcript 1 (ANT1) was found in the muscle samples of patients, but no ANT1 protein was found. In addition to the features of these typical Nekosar-like syndromes (OMIM 212350), it was also found that the mitochondrial oxidative phosphorylation response measured by biochemical analysis was significantly reduced in both sibling skeletal muscles whereas that of fibroblasts Biochemical and morphological analysis showed normal results. In these patients’ muscle samples, a new finding was found that the pyruvate oxidation rate was reduced, the energy production was insufficient and the diversity mitochondrial enzyme complex reaction activity was significantly correlated, and these findings were not the same as in previous patients with Newcastle Syndrome. CONCLUSIONS: It is recommended to perform a muscle biopsy and biochemical analysis of the oxidative phosphorylation response in patients with hypotonia, cardiomyopathy, congenital or infant cataracts.